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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Flynn Aird syndrome ? ### Doctor:
What are the signs and symptoms of Flynn Aird syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Flynn Aird syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the skin 90% Myopia 90% Sensorineural hearing impairment 90% Visual impairment 90% Abnormality of retinal pigmentation 50% Atherosclerosis 50% Bone cyst 50% Carious teeth 50% Cataract 50% Decreased body weight 50% Developmental regression 50% EEG abnormality 50% Impaired pain sensation 50% Incoordination 50% Kyphosis 50% Limitation of joint mobility 50% Neurological speech impairment 50% Scoliosis 50% Seizures 50% Skeletal muscle atrophy 50% Skin ulcer 50% Abnormality of movement 7.5% Abnormality of the thyroid gland 7.5% Cerebral calcification 7.5% Cerebral cortical atrophy 7.5% Primary adrenal insufficiency 7.5% Type II diabetes mellitus 7.5% Alopecia - Aphasia - Ataxia - Autosomal dominant inheritance - Dementia - Dermal atrophy - Hyperkeratosis - Increased bone density with cystic changes - Increased CSF protein - Joint stiffness - Kyphoscoliosis - Osteoporosis - Progressive sensorineural hearing impairment - Rod-cone dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Who is at risk for Non-Small Cell Lung Cancer? ? ### Doctor:
Smoking is the major risk factor for non-small cell lung cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk for lung cancer. Risk factors for lung cancer include the following: - Smoking cigarettes, pipes, or cigars, now or in the past. This is the most important risk factor for lung cancer. The earlier in life a person starts smoking, the more often a person smokes, and the more years a person smokes, the greater the risk of lung cancer. - Being exposed to secondhand smoke. - Being exposed to radiation from any of the following: - Radiation therapy to the breast or chest. | [
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How many people are affected by 8p11 myeloproliferative syndrome ? ### Doctor:
The prevalence of 8p11 myeloproliferative syndrome is unknown. It is thought to be a rare condition. | [
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Is Meningoencephalocele inherited ? ### Doctor:
Is meningoencephalocele inherited? Meningoencephalocele is not thought to be an inherited condition. Studies have proposed that meningoencephalocele is likely a multifactorial defect. This means that both environmental factors and multiple genes may interact with each other to cause the condition. Studies have suggested that environmental factors probably play an important role. This information is supported by the fact that several studies have not identified the condition among close relatives of affected individuals. To date, there have been no genes identified that are likely to play a strong part in causing the condition. | [
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Is Stve-Wiedemann syndrome inherited ? ### Doctor:
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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What are the symptoms of Proteinuria ? ### Doctor:
Proteinuria has no signs or symptoms in the early stages. Large amounts of protein in the urine may cause it to look foamy in the toilet. Also, because protein has left the body, the blood can no longer soak up enough fluid, so swelling in the hands, feet, abdomen, or face may occur. This swelling is called edema. These are signs of large protein loss and indicate that kidney disease has progressed. Laboratory testing is the only way to find out whether protein is in a persons urine before extensive kidney damage occurs. Several health organizations recommend regular urine checks for people at risk for CKD. A 1996 study sponsored by the National Institutes of Health determined that proteinuria is the best predictor of progressive kidney failure in people with type 2 diabetes. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Who is at risk for Pulmonary Hypertension? ? ### Doctor:
The exact number of people who have pulmonary hypertension (PH) isn't known. Group 1 pulmonary arterial hypertension (PAH) without a known cause is rare. It affects women more often than men. People who have group 1 PAH tend to be overweight. PH that occurs with another disease or condition is more common. PH usually develops between the ages of 20 and 60, but it can occur at any age. People who are at increased risk for PH include:
Those who have a family history of the condition. Those who have certain diseases or conditions, such as heart and lung diseases, liver disease, HIV infection, or blood clots in the pulmonary arteries. (For more information about the diseases, conditions, and factors that cause PH, go to "Types of Pulmonary Hypertension.") | [
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What is (are) Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? ### Doctor:
Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia. These features have lead to the acronym ANOTHER syndrome as an alternative name for the condition. The gene that causes the condition is currently unknown but it is thought to be inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Hypoglycemia ? ### Doctor:
Hypoglycemia, also called low blood glucose or low blood sugar, occurs when blood glucose drops below normal levels. Glucose, an important source of energy for the body, comes from food. Carbohydrates are the main dietary source of glucose. Rice, potatoes, bread, tortillas, cereal, milk, fruit, and sweets are all carbohydrate-rich foods. After a meal, glucose is absorbed into the bloodstream and carried to the body's cells. Insulin, a hormone made by the pancreas, helps the cells use glucose for energy. If a person takes in more glucose than the body needs at the time, the body stores the extra glucose in the liver and muscles in a form called glycogen. The body can use glycogen for energy between meals. Extra glucose can also be changed to fat and stored in fat cells. Fat can also be used for energy. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for congenital deafness with labyrinthine aplasia, microtia, and microdontia ? ### Doctor:
These resources address the diagnosis or management of LAMM syndrome: - Gene Review: Gene Review: Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia - Genetic Testing Registry: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is atypical hemolytic-uremic syndrome inherited ? ### Doctor:
Most cases of atypical hemolytic-uremic syndrome are sporadic, which means that they occur in people with no apparent history of the disorder in their family. Less than 20 percent of all cases have been reported to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to increase the risk of the disorder. In some cases, an affected person inherits the mutation from one affected parent. However, most people with the autosomal dominant form of atypical hemolytic-uremic syndrome have no history of the disorder in their family. Because not everyone who inherits a gene mutation will develop the signs and symptoms of the disease, an affected individual may have unaffected relatives who carry a copy of the mutation. | [
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How many people are affected by Wolfram syndrome ? ### Doctor:
The estimated prevalence of Wolfram syndrome type 1 is 1 in 500,000 people worldwide. Approximately 200 cases have been described in the scientific literature. Only a few families from Jordan have been found to have Wolfram syndrome type 2. | [
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What is (are) white sponge nevus ? ### Doctor:
White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). Affected individuals usually develop multiple nevi. Rarely, white sponge nevi also occur on the mucosae (singular: mucosa) of the nose, esophagus, genitals, or anus. The nevi are caused by a noncancerous (benign) overgrowth of cells. White sponge nevus can be present from birth but usually first appears during early childhood. The size and location of the nevi can change over time. In the oral mucosa, both sides of the mouth are usually affected. The nevi are generally painless, but the folds of extra tissue can promote bacterial growth, which can lead to infection that may cause discomfort. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is the outlook for SUNCT Headache ? ### Doctor:
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What is (are) Lichen planus pigmentosus ? ### Doctor:
Lichen planus pigmentosus (LPP) is a rare form of lichen planus. It is characterized by oval or irregularly shaped brown to gray-brown macules and patches on the skin. Areas that are exposed to sun such as the forehead, temples and neck are most commonly affected. However, the macules and patches may also develop on the trunk or in places where two areas of skin touch or rub together (i.e. the armpit, groin, etc). LPP is a chronic, relapsing condition with periods of exacerbations (worsening symptoms) separated by periods of remission (a decrease in or disappearance of symptoms). Although the exact underlying cause of LPP is unknown, studies suggest that UV light, viral infections, and certain topical (applied to the skin) agents such as mustard oil and amla oil, may trigger the condition. | [
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What is (are) Charcot-Marie-Tooth Disease ? ### Doctor:
Charcot-Marie-Tooth disease (CMT) is a group of genetic nerve disorders. It is named after the three doctors who first identified it. In the United States, CMT affects about 1 in 2,500 people. CMT affects your peripheral nerves. Peripheral nerves carry movement and sensation signals between the brain and spinal cord and the rest of the body. Symptoms usually start around the teen years. Foot problems such as high arches or hammertoes can be early symptoms. As CMT progresses, your lower legs may weaken. Later, your hands may also become weak. Doctors diagnose CMT by doing a neurologic exam, nerve tests, genetic tests, or a nerve biopsy. There is no cure. The disease can be so mild you don't realize you have it or severe enough to make you weak. Physical therapy, occupational therapy, braces and other devices and sometimes surgery can help. | [
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What are the treatments for Gum (Periodontal) Disease ? ### Doctor:
Treatments may include deep cleaning, medications, surgery, and bone and tissue grafts. | [
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Is Usher syndrome, type 1E inherited ? ### Doctor:
How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected. | [
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What are the treatments for Diabetes ? ### Doctor:
People with type 1 diabetes control their blood sugar with insulin -- either with shots or an insulin pen. Many people with type 2 diabetes can control blood glucose levels with diet and exercise alone. Others require oral medications or insulin, and some people may need to take both, along with lifestyle modification. (Watch the video to learn how one woman manages her type 2 diabetes. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) To manage your diabetes, here are things to do every day. - Take your medicines for diabetes and for any other health problems, even when you feel good. Take your medicines for diabetes and for any other health problems, even when you feel good. - Keep track of your blood glucose (blood sugar). | [
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What is (are) myoclonic epilepsy with ragged-red fibers ? ### Doctor:
Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family. MERRF is characterized by muscle twitches (myoclonus), weakness (myopathy), and progressive stiffness (spasticity). When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells are called ragged-red fibers. Other features of MERRF include recurrent seizures (epilepsy), difficulty coordinating movements (ataxia), a loss of sensation in the extremities (peripheral neuropathy), and slow deterioration of intellectual function (dementia). | [
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What is (are) Hashimoto thyroiditis ? ### Doctor:
Hashimoto thyroiditis is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. Hashimoto thyroiditis is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones. One of the first signs of Hashimoto thyroiditis is an enlargement of the thyroid called a goiter. Depending on its size, the enlarged thyroid can cause the neck to look swollen and may interfere with breathing and swallowing. As damage to the thyroid continues, the gland can shrink over a period of years and the goiter may eventually disappear. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How many people are affected by core binding factor acute myeloid leukemia ? ### Doctor:
Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals each year. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for familial dysautonomia ? ### Doctor:
These resources address the diagnosis or management of familial dysautonomia: - Gene Review: Gene Review: Familial Dysautonomia - Genetic Testing Registry: Familial dysautonomia - MedlinePlus Encyclopedia: Riley-Day Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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How many people are affected by Y chromosome infertility ? ### Doctor:
Y chromosome infertility occurs in approximately 1 in 2,000 to 1 in 3,000 males of all ethnic groups. This condition accounts for between 5 percent and 10 percent of cases of azoospermia or severe oligospermia. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Plasmablastic lymphoma ? ### Doctor:
Plasmablastic lymphoma is an aggressive form of non-Hodgkin lymphoma. Although the condition most commonly occurs in the oral cavity, it can be diagnosed in many other parts of the body such as the gastrointestinal tract, lymph nodes, and skin. The exact underlying cause of plasmablastic lymphoma is poorly understood; however, it is often associated with suppression of the immune system (i.e. HIV infection, immunosuppressive therapy). There is currently no standard therapy for plasmablastic lymphoma. Treatment usually consists of chemotherapy with or without radiation therapy and hematopoietic stem cell transplantation. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What causes Problems with Taste ? ### Doctor:
Yes. Certain medicines can cause a change in our ability to taste. The medicines that most frequently do this are certain antibiotics and some antihistamines, although other medications can affect our sense of taste as well. If your medicine is causing a problem with your sense of taste, your doctor may be able to adjust or change your medicine. If not, he or she may suggest ways to manage your problem. Do not stop taking your medications unless directed by your doctor. Your doctor will work with you to get the medicine you need while trying to reduce unwanted side effects. | [
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What causes Gastritis ? ### Doctor:
Common causes of gastritis include
- Helicobacter pylori (H. pylori) infection - damage to the stomach lining, which leads to reactive gastritis - an autoimmune response
H. pylori infection. H. pylori is a type of bacteriaorganisms that may cause an infection. H. pylori infection
- causes most cases of gastritis - typically causes nonerosive gastritis - may cause acute or chronic gastritis
H. pylori infection is common, particularly in developing countries, and the infection often begins in childhood. Many people who are infected with H. pylori never have any symptoms. Adults are more likely to show symptoms when symptoms do occur. Researchers are not sure how the H. pylori infection spreads, although they think contaminated food, water, or eating utensils may transmit the bacteria. | [
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What are the genetic changes related to Kearns-Sayre syndrome ? ### Doctor:
Kearns-Sayre syndrome is a condition caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA, called mitochondrial DNA (mtDNA). This type of DNA contains many genes essential for normal mitochondrial function. People with Kearns-Sayre syndrome have a single, large deletion of mtDNA, ranging from 1,000 to 10,000 DNA building blocks (nucleotides). The cause of the deletion in affected individuals is unknown. The mtDNA deletions that cause Kearns-Sayre syndrome result in the loss of genes important for mitochondrial protein formation and oxidative phosphorylation. | [
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What are the symptoms of Acromegaloid facial appearance syndrome ? ### Doctor:
What are the signs and symptoms of Acromegaloid facial appearance syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaloid facial appearance syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of the nasal alae 90% Abnormality of the tongue 90% Blepharophimosis 90% Coarse facial features 90% Gingival overgrowth 90% Hypertelorism 90% Joint hypermobility 90% Large hands 90% Palpebral edema 90% Thick lower lip vermilion 90% Abnormality of the metacarpal bones 50% Cognitive impairment 50% Craniofacial hyperostosis 50% Highly arched eyebrow 50% Sloping forehead 50% Synophrys 50% Thick eyebrow 50% Thickened skin 50% Intellectual disability, mild 7.5% Seizures 7.5% Specific learning disability 7.5% Tapered finger 7.5% Abnormality of the mouth - Autosomal dominant inheritance - Bulbous nose - Large for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Overview of Kidney Disease in Children ? ### Doctor:
Treatment for kidney disease in children depends on the cause of the illness. A child may be referred to a pediatric nephrologista doctor who specializes in treating kidney diseases and kidney failure in childrenfor treatment. Children with a kidney disease that is causing high blood pressure may need to take medications to lower their blood pressure. Improving blood pressure can significantly slow the progression of kidney disease. The health care provider may prescribe
- angiotensin-converting enzyme (ACE) inhibitors, which help relax blood vessels and make it easier for the heart to pump blood - angiotensin receptor blockers (ARBs), which help relax blood vessels and make it easier for the heart to pump blood - diuretics, medications that increase urine output
Many children require two or more medications to control their blood pressure; other types of blood pressure medications may also be needed. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Tetrahydrobiopterin deficiency ? ### Doctor:
What are the signs and symptoms of Tetrahydrobiopterin deficiency? Infants with tetrahydrobiopterin (BH4) deficiency typically appear normal and healthy at birth. Neurological signs and symptoms usually become apparent over time, and can range from mild to severe. These may include abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development. Other manifestations may include decreased spontaneous movements and difficulty swallowing. Without early and appropriate treatment, signs and symptoms progress and affected individuals may experience irreversible intellectual disability, behavioral problems, an inability to control body temperature, and even death in severe cases. The Human Phenotype Ontology provides the following list of signs and symptoms for Tetrahydrobiopterin deficiency. | [
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Is hyperphosphatemic familial tumoral calcinosis inherited ? ### Doctor:
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Disseminated Intravascular Coagulation ? ### Doctor:
Treatment for disseminated intravascular coagulation (DIC) depends on its severity and cause. The main goals of treating DIC are to control bleeding and clotting problems and treat the underlying cause. Acute Disseminated Intravascular Coagulation
People who have acute DIC may have severe bleeding that requires emergency treatment in a hospital. Treatment may include blood transfusions, medicines, and oxygen therapy. (Oxygen is given through nasal prongs, a mask, or a breathing tube.) A blood transfusion is a safe, common procedure. You receive blood through an intravenous (IV) line in one of your blood vessels. Blood transfusions are done to replace blood loss due to an injury, surgery, or illness. Blood is made up of various parts, including red blood cells, white blood cells, platelets, and plasma. | [
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Do you have information about Infant and Newborn Development
### Doctor:
Summary : When will my baby take his first step or say her first word? During their first year, babies start to develop skills they will use for the rest of their lives. The normal growth of babies can be broken down into the following areas: - Gross motor - controlling the head, sitting, crawling, maybe even starting to walk - Fine motor - holding a spoon, picking up a piece of cereal between thumb and finger - Sensory - seeing, hearing, tasting, touching and smelling - Language - starting to make sounds, learning some words, understanding what people say - Social - the ability to play with family members and other children Babies do not develop at the same rate. There is a wide range of what is considered "normal." Your baby may be ahead in some areas and slightly behind in others. | [
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What is (are) 16q24.3 microdeletion syndrome ? ### Doctor:
16q24.3 microdeletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated q24.3. Signs and symptoms may include developmental delay, characteristic facial features, seizures and autism spectrum disorder. Chromosome testing of both parents can provide more information on whether or not the microdeletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a microdeletion. | [
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What is (are) congenital deafness with labyrinthine aplasia, microtia, and microdontia ? ### Doctor:
Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome) is a condition that affects development of the ears and teeth. In people with this condition, the structures that form the inner ear are usually completely absent (labyrinthine aplasia). Rarely, affected individuals have some underdeveloped inner ear structures in one or both ears. The abnormalities of the inner ear cause a form of hearing loss called sensorineural deafness that is present from birth (congenital). Because the inner ear is important for balance as well as hearing, development of motor skills, such as sitting and crawling, may be delayed in affected infants. In addition, people with LAMM syndrome often have abnormally small outer ears (microtia) with narrow ear canals. | [
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What causes Cardiomyopathy ? ### Doctor:
Cardiomyopathy can be acquired or inherited. Acquired means you arent born with the disease, but you develop it due to another disease, condition, or factor. Inherited means your parents passed the gene for the disease on to you. Researchers continue to look for the genetic links to cardiomyopathy and to explore how these links cause or contribute to the various types of the disease. Many times, the cause of cardiomyopathy isnt known. This often is the case when the disease occurs in children. Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy usually is inherited. Its caused by a mutation or change in some of the genes in heart muscle proteins. Hypertrophic cardiomyopathy also can develop over time because of high blood pressure, aging, or other diseases, such as diabetes or thyroid disease. | [
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What are the treatments for Cerebrotendinous xanthomatosis ? ### Doctor:
How might cerebrotendinous xanthomatosis be treated? Cerebrotendinous xanthomatosis may be treated with chenodeoxycholic acid (CDCA), which has been shown to normalize levels of cholestonal and improve neurologic symptoms. Inhibitors of HMG-CoA reductase may be used alone or in combination with CDCA. They are also effective in decreasing cholestanol concentration and improving clinical symptoms, however these treatments can induce muscle damage. Coenzyme Q10 may improve muscle weakness, and cataract surgery may also be required. | [
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What is (are) Vernal keratoconjunctivitis ? ### Doctor:
Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affects the surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name "vernal") and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; and involuntary blinking or spasms of the eyelid (blepharospasm). The condition usually subsides at the onset of puberty. It is caused by a hypersensitivity (allergic reaction) to airborne-allergens. Management focuses on preventing "flare ups" and relieving the symptoms of the condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Selig Benacerraf Greene syndrome ? ### Doctor:
What are the signs and symptoms of Selig Benacerraf Greene syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Selig Benacerraf Greene syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the foot - Autosomal dominant inheritance - Autosomal recessive inheritance - Bicornuate uterus - Congenital onset - Hypertelorism - Hypertension - Low-set ears - Oligohydramnios - Potter facies - Primary amenorrhea - Proteinuria - Pulmonary hypoplasia - Retrognathia - Talipes equinovarus - Vaginal atresia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Fingerprint body myopathy ? ### Doctor:
What are the signs and symptoms of Fingerprint body myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Fingerprint body myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Myopathy - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is hypohidrotic ectodermal dysplasia inherited ? ### Doctor:
Hypohidrotic ectodermal dysplasia has several different inheritance patterns. Most cases are caused by mutations in the EDA gene, which are inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. | [
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What are the treatments for Potocki-Shaffer syndrome ? ### Doctor:
These resources address the diagnosis or management of Potocki-Shaffer syndrome: - Genetic Testing Registry: Potocki-Shaffer syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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What is (are) primary spontaneous pneumothorax ? ### Doctor:
Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. Spontaneous means the pneumothorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely due to the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. Air in the pleural space creates pressure on the lung and can lead to its collapse. A person with this condition may feel chest pain on the side of the collapsed lung and shortness of breath. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Dermatitis herpetiformis ? ### Doctor:
How might dermatitis herpetiformis be treated? The antibiotic dapsone is extremely effective in treating this condition. Symptomatic improvement may occur in as little as several hours after the first dose. However, dapsone may cause serious side effects and requires regular monitoring by a physician. When this medication is used to relieve the symptoms of dermatitis herpetiformis, it should be taken in the smallest effective dose and for the shortest period possible. In some cases, immunosuppressive medications may be used. These medications do not appear to be as effective. A strict gluten-free diet is also recommended to help control the disease. Following this diet may eliminate the need for medications and prevent later complications. | [
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What are the symptoms of Hemochromatosis ? ### Doctor:
What are the signs and symptoms of Hemochromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal glucose tolerance - Alopecia - Amenorrhea - Arrhythmia - Arthropathy - Ascites - Autosomal recessive inheritance - Azoospermia - Cardiomegaly - Cardiomyopathy - Cirrhosis - Congestive heart failure - Diabetes mellitus - Elevated hepatic transaminases - Hepatocellular carcinoma - Hepatomegaly - Hyperpigmentation of the skin - Hypogonadotrophic hypogonadism - Impotence - Increased serum ferritin - Increased serum iron - Osteoporosis - Pleural effusion - Splenomegaly - Telangiectasia - Testicular atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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What are the genetic changes related to spastic paraplegia type 11 ? ### Doctor:
Mutations in the SPG11 gene cause spastic paraplegia type 11. The SPG11 gene provides instructions for making the protein spatacsin. Spatacsin is active (expressed) throughout the nervous system, although its exact function is unknown. Researchers speculate that spatacsin may be involved in the maintenance of axons, which are specialized extensions of nerve cells (neurons) that transmit impulses throughout the nervous system. SPG11 gene mutations typically change the structure of the spatacsin protein. The effect that the altered spatacsin protein has on the nervous system is not known. Researchers suggest that mutations in spatacsin may cause the signs and symptoms of spastic paraplegia type 11 by interfering with the protein's proposed role in the maintenance of axons. | [
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What are the treatments for Charcot-Marie-Tooth Disease ? ### Doctor:
There is no cure for CMT, but physical therapy, occupational therapy, braces and other orthopedic devices, and orthopedic surgery can help people cope with the disabling symptoms of the disease. In addition, pain-killing drugs can be prescribed for patients who have severe pain. | [
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What is (are) neuroblastoma ? ### Doctor:
Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites for tumors to form include the nerve tissue in the abdomen, chest, neck, or pelvis. Neuroblastoma can spread (metastasize) to other parts of the body such as the bones, liver, or skin. Individuals with neuroblastoma may develop general signs and symptoms such as irritability, fever, tiredness (fatigue), pain, loss of appetite, weight loss, or diarrhea. More specific signs and symptoms depend on the location of the tumor and where it has spread. A tumor in the abdomen can cause abdominal swelling. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the genetic changes related to SOX2 anophthalmia syndrome ? ### Doctor:
Mutations in the SOX2 gene cause SOX2 anophthalmia syndrome. This gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX2 protein regulates the activity of other genes, especially those that are important for normal development of the eyes. Mutations in the SOX2 gene prevent the production of functional SOX2 protein. The absence of this protein disrupts the activity of genes that are essential for the development of the eyes and other parts of the body. Abnormal development of these structures causes the signs and symptoms of SOX2 anophthalmia syndrome. | [
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What is (are) Hypotonia ? ### Doctor:
Hypotonia is a medical term used to describe decreased muscle tone. Normally, even when relaxed, muscles have a very small amount of contraction that gives them a springy feel and provides some resistance to passive movement. It is not the same as muscle weakness, although the two conditions can co-exist. Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscles to contract. Hypotonia can happen from damage to the brain, spinal cord, nerves, or muscles. The damage can be the result of trauma, environmental factors, or genetic, muscle, or central nervous system disorders. For example, it can be seen in Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs disease. Sometimes it may not be possible to find what causes the hypotonia. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is triple X syndrome inherited ? ### Doctor:
Most cases of triple X syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra X chromosome in each of the body's cells. 46,XX/47,XXX mosaicism is also not inherited. It occurs as a random event during cell division in early embryonic development. As a result, some of an affected person's cells have two X chromosomes (46,XX), and other cells have three X chromosomes (47,XXX). | [
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What are the symptoms of Crigler Najjar syndrome, type 2 ? ### Doctor:
What are the signs and symptoms of Crigler Najjar syndrome, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Crigler Najjar syndrome, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the liver 90% Autosomal recessive inheritance - Jaundice - Unconjugated hyperbilirubinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How to diagnose Mandibulofacial dysostosis with microcephaly ? ### Doctor:
Is genetic testing available for mandibulofacial dysostosis with microcephaly? Yes. Genetic testing is available for mandibulofacial dysostosis with microcephaly (MFDM) and confirms the diagnosis in virtually all people suspected of having MFDM. There are two approaches to genetic testing for this condition. One is sequence analysis of the EFTUD2 gene to identify a mutation (which detects ~91% of affected people), and the other is deletion analysis (which detects ~9%), for people in whom sequencing does not detect a mutation. When a diagnosis of MFDM is strongly suspected but genetic testing is inconclusive, a clinical diagnosis may still be appropriate. However, given the high sensitivity of genetic testing for this condition, other disorders with overlapping features should first be carefully considered. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for hereditary hemochromatosis ? ### Doctor:
These resources address the diagnosis or management of hereditary hemochromatosis: - Gene Review: Gene Review: HFE-Associated Hereditary Hemochromatosis - Gene Review: Gene Review: Juvenile Hereditary Hemochromatosis - Gene Review: Gene Review: TFR2-Related Hereditary Hemochromatosis - GeneFacts: Hereditary Hemochromatosis: Diagnosis - GeneFacts: Hereditary Hemochromatosis: Management - Genetic Testing Registry: Hemochromatosis type 1 - Genetic Testing Registry: Hemochromatosis type 2A - Genetic Testing Registry: Hemochromatosis type 3 - Genetic Testing Registry: Hemochromatosis type 4 - MedlinePlus Encyclopedia: Hemochromatosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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What are the treatments for Breast Cancer ? ### Doctor:
There are many treatment options for women with breast cancer. The choice of treatment depends on your age and general health, the stage of the cancer, whether or not it has spread beyond the breast, and other factors. If tests show that you have cancer, you should talk with your doctor and make treatment decisions as soon as possible. Studies show that early treatment leads to better outcomes. Working With a Team of Specialists People with cancer often are treated by a team of specialists. The team will keep the primary doctor informed about the patient's progress. The team may include a medical oncologist who is a specialist in cancer treatment, a surgeon, a radiation oncologist who is a specialist in radiation therapy, and others. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. | [
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Is craniometaphyseal dysplasia inherited ? ### Doctor:
Craniometaphyseal dysplasia can have different inheritance patterns. In most cases this condition is inherited in an autosomal dominant pattern, which means one altered copy of the ANKH gene in each cell is sufficient to cause the disorder. Individuals with autosomal dominant craniometaphyseal dysplasia typically have one parent who also has the condition. Less often, cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Rarely, craniometaphyseal dysplasia is suspected to have autosomal recessive inheritance when unaffected parents have more than one child with the condition. Autosomal recessive disorders are caused by mutations in both copies of a gene in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated gene, but they typically do not show signs and symptoms of the disorder. | [
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Is progressive familial heart block inherited ? ### Doctor:
Progressive familial heart block types I and II are inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Some people with TRPM4 gene mutations never develop the condition, a situation known as reduced penetrance. In most cases, an affected person has one parent with progressive familial heart block. | [
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What are the treatments for Glaucoma ? ### Doctor:
Yes. Immediate treatment for early stage, open-angle glaucoma can delay progression of the disease. That's why early diagnosis is very important. Glaucoma treatments include medicines, laser surgery, conventional surgery, or a combination of any of these. While these treatments may save remaining vision, they do not improve sight already lost from glaucoma. | [
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What are the symptoms of Carnitine palmitoyltransferase 2 deficiency ? ### Doctor:
What are the signs and symptoms of Carnitine palmitoyltransferase 2 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnitine palmitoyltransferase 2 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Elevated hepatic transaminases 90% Hepatomegaly 90% Hypertrophic cardiomyopathy 90% Muscle weakness 90% Myalgia 90% Myopathy 90% Seizures 90% Cerebral calcification 50% Multicystic kidney dysplasia 50% Renal insufficiency 50% Encephalitis 7.5% Hypoglycemia 7.5% Reduced consciousness/confusion 7.5% Sudden cardiac death 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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What causes Cardiogenic Shock ? ### Doctor:
Immediate Causes
Cardiogenic shock occurs if the heart suddenly can't pump enough oxygen-rich blood to the body. The most common cause of cardiogenic shock is damage to the heart muscle from a severe heart attack. This damage prevents the hearts main pumping chamber, the left ventricle (VEN-trih-kul), from working well. As a result, the heart can't pump enough oxygen-rich blood to the rest of the body. In about 3 percent of cardiogenic shock cases, the hearts lower right chamber, the right ventricle, doesnt work well. This means the heart can't properly pump blood to the lungs, where it picks up oxygen to bring back to the heart and the rest of the body. Without enough oxygen-rich blood reaching the bodys major organs, many problems can occur. For example:
Cardiogenic shock can cause death if the flow of oxygen-rich blood to the organs isn't restored quickly. | [
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What causes Causes of Diabetes ? ### Doctor:
Type 1 diabetes is caused by a lack of insulin due to the destruction of insulin-producing beta cells in the pancreas. In type 1 diabetesan autoimmune diseasethe bodys immune system attacks and destroys the beta cells. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. But in autoimmune diseases, the immune system attacks the bodys own cells. In type 1 diabetes, beta cell destruction may take place over several years, but symptoms of the disease usually develop over a short period of time. Type 1 diabetes typically occurs in children and young adults, though it can appear at any age. In the past, type 1 diabetes was called juvenile diabetes or insulin-dependent diabetes mellitus. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Hyperlipoproteinemia type 4 ? ### Doctor:
What are the signs and symptoms of Hyperlipoproteinemia type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipoproteinemia type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal glucose tolerance - Atheroeruptive xanthoma - Autosomal dominant inheritance - Heterogeneous - Hypertriglyceridemia - Increased circulating very-low-density lipoprotein cholesterol - Precocious atherosclerosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Renal oncocytoma ? ### Doctor:
What are the signs and symptoms of Renal oncocytoma? Most people with a renal oncocytoma do not have any signs or symptoms. In fact, these tumors are often discovered incidentally (by chance) while a person is undergoing diagnostic imaging for other conditions. In about a third of cases, people with renal oncocytoma will present with abdominal or flank pain; blood in the urine; and/or an abdominal mass. Affected people usually have a single, unilateral (only affecting one kidney) renal oncocytoma. However, multiple, bilateral (affecting both kidneys) tumors have rarely been reported in people with tuberous sclerosis complex and Birt-Hogg-Dube syndrome. The Human Phenotype Ontology provides the following list of signs and symptoms for Renal oncocytoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
what research (or clinical trials) is being done for Acute Disseminated Encephalomyelitis ? ### Doctor:
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to ADEM in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure demyelinating disorders such as ADEM. | [
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What is (are) Nijmegen breakage syndrome ? ### Doctor:
Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems. People with this condition typically grow slowly during infancy and early childhood. After this period of slow growth, affected individuals grow at a normal rate but remain shorter than their peers. Microcephaly is apparent from birth in the majority of affected individuals. The head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Individuals with Nijmegen breakage syndrome have distinctive facial features that include a sloping forehead, a prominent nose, large ears, a small jaw, and outside corners of the eyes that point upward (upslanting palpebral fissures). | [
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What is (are) Giardia Infections ? ### Doctor:
Giardiasis is an illness caused by a parasite called Giardia intestinalis. It lives in soil, food, and water. It may also be on surfaces that have been contaminated with waste. You can become infected if you swallow the parasite. You can also get it if you're exposed to human feces (poop) through sexual contact. The risk of getting giardia is higher for travelers to countries where it is common, people in child care settings, and those who drink untreated water. Diarrhea is the main symptom of giardia infection. Others include - Passing gas - Greasy stools - Stomach cramps - Upset stomach or nausea These symptoms may lead to weight loss and loss of body fluids. Some people have no symptoms at all. Symptoms of infection often last two to six weeks. Stool sample tests can diagnose it. | [
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what research (or clinical trials) is being done for Ataxia ? ### Doctor:
The NINDS supports and conducts a broad range of basic and clinical research on cerebellar and spinocerebellar degeneration, including work aimed at finding the cause(s) of ataxias and ways to treat, cure, and, ultimately, prevent them. Scientists are optimistic that understanding the genetics of these disorders may lead to breakthroughs in treatment. | [
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What causes Iron-Deficiency Anemia ? ### Doctor:
Not having enough iron in your body causes iron-deficiency anemia. Lack of iron usually is due to blood loss, poor diet, or an inability to absorb enough iron from food. Blood Loss
When you lose blood, you lose iron. If you don't have enough iron stored in your body to make up for the lost iron, you'll develop iron-deficiency anemia. In women, long or heavy menstrual periods or bleeding fibroids in the uterus may cause low iron levels. Blood loss that occurs during childbirth is another cause of low iron levels in women. Internal bleeding (bleeding inside the body) also may lead to iron-deficiency anemia. This type of blood loss isn't always obvious, and it may occur slowly. Some causes of internal bleeding are:
A bleeding ulcer, colon polyp, or colon cancer
Regular use of aspirin or other pain medicines, such as nonsteroidal anti-inflammatory drugs (for example, ibuprofen and naproxen)
Urinary tract bleeding
Blood loss from severe injuries, surgery, or frequent blood drawings also can cause iron-deficiency anemia. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Situs inversus ? ### Doctor:
How might situs inversus be treated? In isolated situs inversus, no treatment may be necessary. When situs inversus is associated with another condition, treatment may depend on the associated condition and the signs and symptoms present in the affected person. Knowing that a person has situs inversus is important for diagnosing medical problems and preventing surgical mishaps that can result from the failure to recognize reversed anatomy. For example, in a person with situs inversus, appendicitis causes pain in the left lower abdomen instead of the right lower abdomen. Wearing medical identification can help ensure proper treatment in an emergency medical situation. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Rothmund-Thomson syndrome ? ### Doctor:
These resources address the diagnosis or management of Rothmund-Thomson syndrome: - Gene Review: Gene Review: Rothmund-Thomson Syndrome - Genetic Testing Registry: Rothmund-Thomson syndrome - MedlinePlus Encyclopedia: Cataract - MedlinePlus Encyclopedia: Osteosarcoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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Do you have information about Pregnancy and Medicines
### Doctor:
Summary : Not all medicines are safe to take when you are pregnant. Some medicines can harm your baby. That includes over-the-counter or prescription drugs, herbs, and supplements. Always speak with your health care provider before you start or stop any medicine. Not using medicine that you need may be more harmful to you and your baby than using the medicine. For example, many pregnant women take prescription medicines for health problems like diabetes, asthma, seizures, and heartburn. The decision about whether or not to take a medicine depends on the risks and benefits. You and your health care provider should make this choice together. Pregnant women should not take regular vitamins. They may have too much or too little of the vitamins that you need. There are special vitamins for pregnant women. | [
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What is the outlook for Pancreatic Cancer ? ### Doctor:
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether or not the tumor can be removed by surgery. - The stage of the cancer (the size of the tumor and whether the cancer has spread outside the pancreas to nearby tissues or lymph nodes or to other places in the body). - The patients general health. - Whether the cancer has just been diagnosed or has recurred (come back). Pancreatic cancer can be controlled only if it is found before it has spread, when it can be completely removed by surgery. If the cancer has spread, palliative treatment can improve the patient's quality of life by controlling the symptoms and complications of this disease. | [
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What causes Ehlers-Danlos syndrome ? ### Doctor:
What causes Ehlers-Danlos syndrome? Ehlers-Danlos syndrome can be caused by changes (mutations) in several different genes (COL5A1, COL5A2, COL1A1, COL3A1, TNXB, PLOD1, COL1A2, and ADAMTS2). However, the underlying genetic cause is unknown in some families. Mutations in these genes usually alter the structure, production, and/or processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissues throughout the body. A defect in collagen can weaken connective tissues in the skin, bones, blood vessels, and organs resulting in the features of the disorder. | [
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How to diagnose High Blood Pressure ? ### Doctor:
If you are diagnosed with high blood pressure, here are questions to ask your doctor. - Your Blood Pressure Numbers - What is my blood pressure reading in numbers? - What is my goal blood pressure? - Is my blood pressure under adequate control? - Is my systolic pressure too high (over 140)? Your Blood Pressure Numbers - What is my blood pressure reading in numbers? - What is my goal blood pressure? - Is my blood pressure under adequate control? - Is my systolic pressure too high (over 140)? - What is my blood pressure reading in numbers? - What is my goal blood pressure? - Is my blood pressure under adequate control? - Is my systolic pressure too high (over 140)? What is my blood pressure reading in numbers? What is my goal blood pressure? Is my blood pressure under adequate control? | [
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What is (are) Czech dysplasia ? ### Doctor:
Czech dysplasia is an inherited condition that affects joint function and bone development. People with this condition have joint pain (osteoarthritis) that begins in adolescence or early adulthood. The joint pain mainly affects the hips, knees, shoulders, and spine and may impair mobility. People with Czech dysplasia often have shortened bones in their third and fourth toes, which make their first two toes appear unusually long. Affected individuals may have flattened bones of the spine (platyspondyly) or an abnormal spinal curvature, such as a rounded upper back that also curves to the side (kyphoscoliosis). Some people with Czech dysplasia have progressive hearing loss. | [
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What is (are) Corneal Disorders ? ### Doctor:
Your cornea is the outermost layer of your eye. It is clear and shaped like a dome. The cornea helps to shield the rest of the eye from germs, dust, and other harmful matter. It also helps your eye to focus. If you wear contact lenses, they float on top of your corneas. Problems with the cornea include - Refractive errors - Allergies - Infections - Injuries - Dystrophies - conditions in which parts of the cornea lose clarity due to a buildup of cloudy material Treatments of corneal disorders include medicines, corneal transplantation, and corneal laser surgery. NIH: National Eye Institute | [
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What are the symptoms of D-glycericacidemia ? ### Doctor:
What are the signs and symptoms of D-glycericacidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for D-glycericacidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Sensorineural hearing impairment 5% Aminoaciduria - Autosomal recessive inheritance - Cerebral cortical atrophy - Delayed myelination - Encephalopathy - Failure to thrive - Growth delay - Hyperreflexia - Hypsarrhythmia - Intellectual disability - Metabolic acidosis - Microcephaly - Muscular hypotonia of the trunk - Myoclonus - Neonatal hypotonia - Nonketotic hyperglycinemia - Opisthotonus - Phenotypic variability - Seizures - Spastic tetraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Langerhans cell histiocytosis ? ### Doctor:
These resources address the diagnosis or management of Langerhans cell histiocytosis: - Cincinnati Children's Hospital Medical Center - Cleveland Clinic - Genetic Testing Registry: Langerhans cell histiocytosis, multifocal - National Cancer Institute: Langerhans Cell Histiocytosis Treatment - Seattle Children's Hospital - St. Jude Children's Research Hospital - Sydney Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Weissenbacher-Zweymller syndrome ? ### Doctor:
These resources address the diagnosis or management of Weissenbacher-Zweymller syndrome: - Genetic Testing Registry: Weissenbacher-Zweymuller syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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what research (or clinical trials) is being done for Menkes Disease ? ### Doctor:
Recent research sponsored by the NINDS developed a blood test that could be given to newborns at risk for Menkes disease based on a positive family history for the disorder or other indications. The test measures 4 different chemicals in the blood and, depending upon their levels, can accurately diagnose the presence of Menkes disease before symptoms appear. Study results showed higher survival rates for children given the earliest copper injection treatment and improved, if not normal, 2. Additional research is being performed by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, in collaboration with the NINDS, that applies gene therapy approaches to Menkes disease.3
1. Kaler, SG. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is congenital generalized lipodystrophy inherited ? ### Doctor:
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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What are the symptoms of Mosaic trisomy 9 ? ### Doctor:
What are the signs and symptoms of mosaic trisomy 9? The signs and symptoms of mosaic trisomy 9 vary but may include: Different degrees of developmental delay and intellectual disability Abnormal growth including low birth weight, failure to thrive, hypotonia (low muscle tone), and short stature Characteristic craniofacial features such as microcephaly (unusually small head); a sloping forehead with narrow temples; a broad nose with a bulbous tip and "slitlike" nostrils; a small jaw; abnormally wide fontanelles at birth; cleft lip and/or palate; low-set, misshapen ears; microphthalmia (unusually small eyes) and/or short, upwardly slanting eyelid folds (palpebral fissures) Vision problems Congenital heart defects Abnormalities of the muscles and/or bones such as congenital dislocation of the hips; abnormal position and/or limited function of the joints; underdevelopment of certain bones; and/or abnormal curvature of the spine Unusually formed feet, such as club foot or "rocker bottom" feet Abnormalities of the male reproductive system, including undescended testes, a small penis, and/or abnormal placement of the urinary opening Kidney problems Brain malformations such as hydrocephalus and/or Dandy-Walker malformation | [
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What is (are) Pyruvate carboxylase deficiency ? ### Doctor:
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate carboxylase deficiency, types A, B, and C, which are distinguished by the severity of their signs and symptoms. This condition is caused by mutations in the PC gene and inherited in an autosomal recessive pattern. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Spinal muscular atrophy type 3 ? ### Doctor:
What are the signs and symptoms of Spinal muscular atrophy type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia of lower limbs - Autosomal recessive inheritance - Degeneration of anterior horn cells - EMG abnormality - Hand tremor - Hyporeflexia - Limb fasciculations - Muscle cramps - Muscle weakness - Progressive - Spinal muscular atrophy - Tongue fasciculations - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the genetic changes related to Brody myopathy ? ### Doctor:
Mutations in the ATP2A1 gene cause Brody myopathy. The ATP2A1 gene provides instructions for making an enzyme called sarco(endo)plasmic reticulum calcium-ATPase 1 (SERCA1). The SERCA1 enzyme is found in skeletal muscle cells, specifically in the membrane of a structure called the sarcoplasmic reticulum. This structure plays a major role in muscle contraction and relaxation by storing and releasing positively charged calcium atoms (calcium ions). When calcium ions are transported out of the sarcoplasmic reticulum, muscles contract; when calcium ions are transported into the sarcoplasmic reticulum, muscles relax. The SERCA1 enzyme transports calcium ions from the cell into the sarcoplasmic reticulum, triggering muscle relaxation. ATP2A1 gene mutations lead to the production of a SERCA1 enzyme with decreased or no function. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Nonspherocytic hemolytic anemia due to hexokinase deficiency ? ### Doctor:
What are the signs and symptoms of Nonspherocytic hemolytic anemia due to hexokinase deficiency? Hexokinase deficiency manifests itself primarily as nonspherocytic hemolytic anemia (NSHA). The signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency, a more common inherited cause of hemolytic anemia, and may include jaundice, fatigue, lethargy, and pale skin.. However, the anemia associated with hexokinase deficiency is generally more severe. There have been reports of some affected individuals having various other abnormalities including multiple malformations, panmyelopathy, and latent diabetes. The Human Phenotype Ontology provides the following list of signs and symptoms for Nonspherocytic hemolytic anemia due to hexokinase deficiency. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Diamond-Blackfan anemia 3 ? ### Doctor:
What are the signs and symptoms of Diamond-Blackfan anemia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Diamond-Blackfan anemia 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Erythrocyte macrocytosis - Macrocytic anemia - Persistence of hemoglobin F - Reticulocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. | [
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What are the treatments for Cramp-fasciculation syndrome ? ### Doctor:
How might cramp-fasciculation syndrome be treated? There is limited information in the medical literature about the treatment of cramp-fasciculation syndrome (CFS). Much of what is available describes individual cases. Some people with CFS improve without treatment. Treatment with carbamazepine, gabapentin, or pregabalin (medications that reduce the hyper-excitability of nerves) was described as helpful in improving symptoms in individual cases. Immunosuppressive therapy (e.g., prednisone) has been used to treat cases of CFS that did not respond to other treatments. For severe cases, additional treatment options may be considered. Decisions regarding treatment should be carefully considered and discussed with a knowledgeable healthcare provider. | [
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What are the symptoms of Congenital torticollis ? ### Doctor:
What are the signs and symptoms of Congenital torticollis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital torticollis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Facial asymmetry - Torticollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Financial Help for Diabetes Care ? ### Doctor:
Assistive technology is any device that assists, adapts, or helps to rehabilitate someone with a disability so he or she may function more safely, effectively, and independently at home, at work, and in the community. Assistive technology may include
- computers with features that make them accessible to people with disabilities - adaptive equipment, such as wheelchairs - bathroom modifications, such as grab bars or shower seats
The following organizations may be able to provide information, awareness, and training in the use of technology to assist people with disabilities:
Alliance for Technology Access 1119 Old Humboldt Road Jackson, TN 38305 Phone: 18009143017 or 7315545ATA (7315545282) TTY: 7315545284 Fax: 7315545283 Email: [email protected] Internet: www.ataccess.org
National Assistive Technology Technical Assistance Partnership 1700 North Moore Street, Suite 1540 Arlington, VA 222091903 Phone: 7035246686 Fax: 7035246630 TTY: 7035246639 Email: [email protected] Internet: www.resnaprojects.org/nattap
United Cerebral Palsy 1825 K Street NW, Suite 600 Washington, D.C. 20006 Phone: 18008725827 or 2027760406 Internet: www.ucp.org/resources/assistive-technology | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Ataxia telangiectasia ? ### Doctor:
What are the signs and symptoms of Ataxia telangiectasia? Ataxia-telangiectasia affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition. | [
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What is (are) Rosacea ? ### Doctor:
Rosacea is a long-term disease that affects your skin and sometimes your eyes. It causes redness and pimples. Rosacea is most common in women and people with fair skin. It most often affects middle-aged and older adults. In most cases, rosacea only affects the face. Symptoms can include - Frequent redness of the face, or flushing - Small, red lines under the skin - Acne - A swollen nose - Thick skin, usually on the forehead, chin, and cheeks - Red, dry, itchy eyes and sometimes vision problems No one knows what causes rosacea. You may be more likely to have it if you blush a lot or if rosacea runs in your family. Rosacea is not dangerous. There is no cure, but treatments can help. They include medicines and sometimes surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases | [
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What are the genetic changes related to Hennekam syndrome ? ### Doctor:
Mutations in the CCBE1 or FAT4 gene can cause Hennekam syndrome. The CCBE1 gene provides instructions for making a protein that is found in the lattice of proteins and other molecules outside the cell (extracellular matrix). The CCBE1 protein is involved in the maturation (differentiation) and movement (migration) of immature cells called lymphangioblasts that will eventually form the lining (epithelium) of lymphatic vessels. The function of the protein produced from the FAT4 gene is largely unknown. Research shows that the FAT4 protein may be involved in determining the position of various components within cells (cell polarity). CCBE1 gene mutations that cause Hennekam syndrome change the three-dimensional shape of the protein and severely decrease its function. | [
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What is (are) Cerebral Arteriosclerosis ? ### Doctor:
Cerebral arteriosclerosis is the result of thickening and hardening of the walls of the arteries in the brain. Symptoms of cerebral arteriosclerosis include headache, facial pain, and impaired vision. Cerebral arteriosclerosis can cause serious health problems. If the walls of an artery are too thick, or a blood clot becomes caught in the narrow passage, blood flow to the brain can become blocked and cause an ischemic stroke. When the thickening and hardening is uneven, arterial walls can develop bulges (called aneurysms). If a bulge ruptures, bleeding in the brain can cause a hemorrhagic stroke. Both types of stroke can be fatal. Cerebral arteriosclerosis is also related to a condition known as vascular dementia, in which small, symptom-free strokes cause cumulative damage and death to neurons (nerve cells) in the brain. | [
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How many people are affected by platyspondylic lethal skeletal dysplasia, Torrance type ? ### Doctor:
This condition is very rare; only a few affected individuals have been reported worldwide. | [
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What are the treatments for Idiopathic Pulmonary Fibrosis ? ### Doctor:
Doctors may prescribe medicines, oxygen therapy, pulmonary rehabilitation (PR), and lung transplant to treat idiopathic pulmonary fibrosis (IPF). Medicines
Currently, no medicines are proven to slow the progression of IPF. Prednisone, azathioprine (A-zah-THI-o-preen), and N-acetylcysteine (a-SEH-til-SIS-tee-in) have been used to treat IPF, either alone or in combination. However, experts have not found enough evidence to support their use. Prednisone
Prednisone is an anti-inflammatory medicine. You usually take it by mouth every day. However, your doctor may give it to you through a needle or tube inserted into a vein in your arm for several days. After that, you usually take it by mouth. Because prednisone can cause serious side effects, your doctor may prescribe it for 3 to 6 months or less at first. | [
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What is (are) Sciatica ? ### Doctor:
Sciatica is a symptom of a problem with the sciatic nerve, the largest nerve in the body. It controls muscles in the back of your knee and lower leg and provides feeling to the back of your thigh, part of your lower leg, and the sole of your foot. When you have sciatica, you have pain, weakness, numbness, or tingling. It can start in the lower back and extend down your leg to your calf, foot, or even your toes. It's usually on only one side of your body. Causes of sciatica include - A ruptured intervertebral disk - Narrowing of the spinal canal that puts pressure on the nerve, called spinal stenosis - An injury such as a pelvic fracture. In many cases no cause can be found. Sometimes sciatica goes away on its own. Treatment, if needed, depends on the cause of the problem. It may include exercises, medicines, and surgery. | [
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What are the symptoms of Renal dysplasia megalocystis sirenomelia ? ### Doctor:
What are the signs and symptoms of Renal dysplasia megalocystis sirenomelia? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia megalocystis sirenomelia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the urethra 50% Aplasia/Hypoplasia of the sacrum 50% Multicystic kidney dysplasia 50% Renal hypoplasia/aplasia 50% Sirenomelia 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. | [
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How many people are affected by nonsyndromic hearing loss ? ### Doctor:
Between 2 and 3 per 1,000 children in the United States are born with detectable hearing loss in one or both ears. The prevalence of hearing loss increases with age; the condition affects 1 in 8 people in the United States age 12 and older, or about 30 million people. By age 85, more than half of all people experience hearing loss. | [
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Subsets and Splits