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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 Parasites - Trichinellosis (also known as Trichinosis) ? ### Doctor:
A diagnosis of trichinellosis is made in patients whose signs and symptoms are compatible with trichinellosis, have a positive laboratory test for Trichinella, and who can recall eating raw or undercooked pork or wild game meat. Laboratory diagnosis of Trichinella infection is most often made by a Trichinella antibody test. In some cases a muscle biopsy may be performed. More on: Resources for Health Professionals: Diagnosis | [
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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 Pelizaeus-Merzbacher Disease ? ### Doctor:
There is no cure for Pelizaeus-Merzbacher disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive and may include medication for movement disorders. | [
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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 Hypophosphatemic rickets ? ### Doctor:
What are the signs and symptoms of Hypophosphatemic rickets? The symptoms of hypophosphatemic rickets usually begin in infancy or early childhood. Specific symptoms and severity can vary greatly among affected children. The condition can be so mild that there are no noticeable symptoms, or so severe that it causes bowing of the legs and other bone deformities; bone pain; joint pain; and short stature. Other symptoms may include premature closure of the skull bones in babies (craniosynostosis); limited joint movement; and dental abnormalities. If left untreated, symptoms worsen over time. The Human Phenotype Ontology provides the following list of signs and symptoms for Hypophosphatemic rickets. If the information is available, the table below includes how often the symptom is seen in people with this condition. | [
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What are the symptoms of Dystonia 3, torsion, X-linked ? ### Doctor:
What are the signs and symptoms of Dystonia 3, torsion, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 3, torsion, X-linked. 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) Adult onset - Chorea - Myoclonus - Parkinsonism with favorable response to dopaminergic medication - Torsion dystonia - Tremor - X-linked recessive 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. | [
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What causes Jejunal atresia ? ### Doctor:
What causes jejunal atresia? Jejunal atresia occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an artery that supplies blood to the colon (the marginal artery). This leads to an intestinal blockage or "atresia." Jejunal atresia typically occurs sporadically in people with no family history of the condition. In these cases, the exact underlying cause is generally unknown; however, scientists suspect that it may be a consequence of disrupted blood flow in the developing fetus. Rarely, more than one family member can be affected by jejunal atresia, suggesting that there may be a genetic component in some cases. | [
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Is Dowling-Degos disease inherited ? ### Doctor:
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. | [
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What are the symptoms of Kienbock's disease ? ### Doctor:
What are the signs and symptoms of Kienbock's disease? Kienbock's disease most commonly affects men between the ages of 20 and 40 years, but it affects women as well. Most affected people report a history of trauma to the wrist. Symptoms can vary depending on the stage of the condition, but usually include pain that is localized to the affected area, decreased motion, swelling, and weakness in the affected hand. Rarely, the condition may occur in both hands. The Human Phenotype Ontology provides the following list of signs and symptoms for Kienbock's disease. 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. | [
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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:
Do you have information about Impaired Driving
### Doctor:
Summary : Impaired driving is dangerous. It's the cause of more than half of all car crashes. It means operating a motor vehicle while you are affected by - Alcohol - Legal or illegal drugs - Sleepiness - Distractions, such as using a cell phone or texting - Having a medical condition which affects your driving For your safety and the safety of others, do not drive while impaired. Have someone else drive you or take public transportation when you cannot drive. If you need to take a call or send a text message, pull over. National Highway Traffic Safety Administration | [
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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 Stroke ? ### Doctor:
The signs and symptoms of a stroke often develop quickly. However, they can develop over hours or even days. The type of symptoms depends on the type of stroke and the area of the brain thats affected. How long symptoms last and how severe they are vary among different people. Signs and symptoms of a stroke may include:
Sudden weakness
Paralysis (an inability to move) or numbness of the face, arms, or legs, especially on one side of the body
Confusion
Trouble speaking or understanding speech
Trouble seeing in one or both eyes
Problems breathing
Dizziness, trouble walking, loss of balance or coordination, and unexplained falls
Loss of consciousness
Sudden and severe headache
A transient ischemic attack (TIA) has the same signs and symptoms as a stroke. | [
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What are the symptoms of L1 syndrome ? ### Doctor:
What are the signs and symptoms of L1 syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for L1 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) Aqueductal stenosis 90% Behavioral abnormality 90% Cognitive impairment 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hydrocephalus 90% Hyperreflexia 90% Hypertonia 90% Migraine 90% Nausea and vomiting 90% Neurological speech impairment 90% Adducted thumb 50% Aganglionic megacolon 7.5% Seizures 7.5% Skeletal muscle atrophy 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 is (are) Mucopolysaccharidosis type I ? ### Doctor:
Mucopolysaccharidosis I (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations lead to reduced levels or the complete lack of the IDUA enzyme. Without the proper amount of this enzyme, large sugar molecules called glycosaminoglycans (GAGs) accumulate within cells called lysosomes. This causes the lysosomes to increase in size, causing many different organs and tissues of the body to become enlarged. This leads to the medical problems seen in the condition. MPS I was once divided into three separate syndromes: Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome, listed from most to least severe. | [
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What are the treatments for Dry Eye ? ### Doctor:
Dry eye can be a temporary or ongoing condition, so treatments can be short term or may extend over long periods of time. The goal of treatment is to keep the eyes moist and relieve symptoms. Talk to your doctor to rule out other conditions that can cause dry eye, such as Sjgren's syndrome. You may need to treat these conditions. If dry eye results from taking a medication, your doctor may recommend switching to a medication that does not cause dry eye as a side effect. Here are treatments for dry eye. Medication. Cyclosporine, an anti-inflammatory medication, is a prescription eye drop available to treat certain kinds of dry eye. In people with certain kinds of dry eye, it may decrease damage to the cornea, increase basic tear production, and reduce symptoms of dry eye. | [
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Is Polycythemia vera inherited ? ### Doctor:
Is polycythemia vera inherited? Most cases of polycythemia vera (PCV) are not inherited from a parent and are acquired during a person's lifetime. The condition is associated with genetic changes (mutations) that are somatic, which means they occur in cells of the body but not in egg and sperm cells. In rare cases, the risk to develop PCV runs in families and sometimes appears to have an autosomal dominant pattern of inheritance. This means that only one altered copy of a gene in each cell is enough to give a person an increased risk for PCV. In other words, while an increased risk to develop PCV may be inherited, the condition itself is not inherited. | [
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What is (are) Syncope ? ### Doctor:
Syncope is a medical term used to describe a temporary loss of consciousness due to the sudden decline of blood flow to the brain. Syncope is commonly called fainting or passing out. If an individual is about to faint, he or she will feel dizzy, lightheaded, or nauseous and their field of vision may white out or black out. The skin may be cold and clammy. The person drops to the floor as he or she loses consciousness. After fainting, an individual may be unconscious for a minute or two, but will revive and slowly return to normal. Syncope can occur in otherwise healthy people and affects all age groups, but occurs more often in the elderly. Vasovagal
Carotid sinus
Situational | [
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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 Prostate Cancer ? ### Doctor:
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (level of PSA, Gleason score, grade of the tumor, how much of the prostate is affected by the cancer, and whether the cancer has spread to other places in the body). - The patients age. - Whether the cancer has just been diagnosed or has recurred (come back). Treatment options also may depend on the following: - Whether the patient has other health problems. - The expected side effects of treatment. - Past treatment for prostate cancer. - The wishes of the patient. Most men diagnosed with prostate cancer do not die of it. | [
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What is (are) Stevens-Johnson syndrome ? ### Doctor:
Stevens-Johnson Syndrome (SJS), also called erythema multiforme major, is a limited form of toxic epidermal necrolysis. This disorder affects the skin, mucous membranes and eyes. Stevens-Johnson syndrome occurs twice as often in men as women, and most cases appear in children and young adults under 30, although it can develop in people at any age. Having a gene called HLA-B 1502, increases risk of having Stevens-Johnson syndrome. It is an emergency medical condition that usually requires hospitalization. Treatment focuses on eliminating the underlying cause, controlling symptoms and minimizing complications and includes pain medication to reduce discomfort, medication to relieve itching (antihistamines), antibiotics to control infection, when needed and medication to reduce skin inflammation (topical steroids). | [
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What are the treatments for cerebral cavernous malformation ? ### Doctor:
These resources address the diagnosis or management of cerebral cavernous malformation: - Angioma Alliance: Imaging and Diagnostics - Gene Review: Gene Review: Familial Cerebral Cavernous Malformation - Genetic Testing Registry: Cerebral cavernous malformation - Genetic Testing Registry: Cerebral cavernous malformations 1 - Genetic Testing Registry: Cerebral cavernous malformations 2 - Genetic Testing Registry: Cerebral cavernous malformations 3 - MedlinePlus Encyclopedia: Cerebral angiography 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) Lesch-Nyhan syndrome ? ### Doctor:
Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood and build up under the skin and cause gouty arthritis (arthritis caused by an accumulation of uric acid in the joints). Uric acid accumulation can also cause kidney and bladder stones. The nervous system and behavioral disturbances experienced by people with Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as tensing of various muscles (dystonia), jerking movements (chorea), and flailing of the limbs (ballismus). People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. | [
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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 Oculopharyngeal muscular dystrophy ? ### Doctor:
Is genetic testing available for oculopharyngeal muscular dystrophy? Genetic testing is available for oculopharyngeal muscular dystrophy (OPMD). GeneTests lists the names of laboratories that are performing genetic testing for this condition. To view the contact information for the clinical laboratories conducting testing click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals that are interested in learning more will need to work with a health care provider or a genetics professional. | [
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What is (are) Fetal Alcohol Spectrum Disorders ? ### Doctor:
Alcohol can harm your baby at any stage during a pregnancy. That includes the earliest stages before you even know you are pregnant. Drinking alcohol can cause a group of conditions called fetal alcohol spectrum disorders (FASDs). Effects can include physical and behavioral problems such as trouble with - Learning and remembering - Understanding and following directions - Controlling emotions - Communicating and socializing - Daily life skills, such as feeding and bathing Fetal alcohol syndrome is the most serious type of FASD. People with fetal alcohol syndrome have facial abnormalities, including wide-set and narrow eyes, growth problems and nervous system abnormalities. FASDs last a lifetime. There is no cure for FASDs. Treatments can help. | [
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Is Ankylosing spondylitis inherited ? ### Doctor:
Is ankylosing spondylitis inherited? Although ankylosing spondylitis (AS) can affect more than one person in a family, it is not a purely genetic disease. While genes seem to play a role, the exact cause of AS is not known. It is considered to be multifactorial, which means that multiple genetic and environmental factors likely interact to affect a person's risk to develop AS. Most of these factors have not been identified. Inheriting a genetic variation that has been associated with AS does not mean a person will develop AS. Currently, it is not possible to predict the exact likelihood that the children of an affected person will develop the disease. You can find more information about the genetics of AS from Genetics Home Reference, the U.S National Library of Medicine's Web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions. | [
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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 Cardiogenic Shock? ? ### Doctor:
The most common risk factor for cardiogenic shock is having a heart attack. If you've had a heart attack, the following factors can further increase your risk for cardiogenic shock:
Older age
A history of heart attacks or heart failure
Coronary heart disease that affects all of the hearts major blood vessels
High blood pressure
Diabetes
Women who have heart attacks are at higher risk for cardiogenic shock than men who have heart attacks. | [
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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 Medullary Sponge Kidney ? ### Doctor:
A health care provider diagnoses medullary sponge kidney based on
- a medical and family history - a physical exam - imaging studies
Medical and Family History
Taking a medical and family history can help diagnose medullary sponge kidney. A health care provider will suspect medullary sponge kidney when a person has repeated UTIs or kidney stones. Physical Exam
No physical signs are usually present in a patient with medullary sponge kidney, except for blood in the urine. Health care providers usually confirm a diagnosis of medullary sponge kidney with imaging studies. Imaging Studies
Imaging is the medical term for tests that use different methods to see bones, tissues, and organs inside the body. | [
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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) Autonomic Nervous System Disorders ? ### Doctor:
Your autonomic nervous system is the part of your nervous system that controls involuntary actions, such as the beating of your heart and the widening or narrowing of your blood vessels. When something goes wrong in this system, it can cause serious problems, including - Blood pressure problems - Heart problems - Trouble with breathing and swallowing - Erectile dysfunction in men Autonomic nervous system disorders can occur alone or as the result of another disease, such as Parkinson's disease, alcoholism and diabetes. Problems can affect either part of the system, as in complex regional pain syndromes, or all of the system. Some types are temporary, but many worsen over time. When they affect your breathing or heart function, these disorders can be life-threatening. | [
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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 Proteinuria ? ### Doctor:
Until recently, an accurate protein measurement required a 24-hour urine collection. In a 24-hour collection, the patient urinates into a container, which is kept refrigerated between trips to the bathroom. The patient is instructed to begin collecting urine after the first trip to the bathroom in the morning. Every drop of urine for the rest of the day is to be collected in the container. The next morning, the patient adds the first urination after waking and the collection is complete. In recent years, researchers have found that a single urine sample can provide the needed information. In the newer technique, the amount of albumin in the urine sample is compared with the amount of creatinine, a waste product of normal muscle breakdown. The measurement is called a urine albumin-to-creatinine ratio (UACR). | [
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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 Childhood Central Nervous System Embryonal Tumors ? ### Doctor:
Key Points
- There are different types of treatment for children who have central nervous system (CNS) embryonal tumors. - Children who have CNS embryonal tumors should have their treatment planned by a team of health care providers who are experts in treating brain tumors in children. - Childhood brain tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. - Some cancer treatments cause side effects months or years after treatment has ended. - Five types of treatment are used: - Surgery - Radiation therapy - Chemotherapy - High-dose chemotherapy with stem cell rescue - Targeted therapy - New types of treatment are being tested in clinical trials. | [
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What are the treatments for Gerstmann-Straussler-Scheinker disease ? ### Doctor:
How might Gerstmann-Straussler-Scheinker disease be treated? The treatment of Gerstmann-Straussler-Scheinker disease (GSS) is based on the signs and symptoms present in each person. There is currently no cure for the condition and no known treatments to slow its progression. GeneReviews' Web site offers more specific information about the treatment and management of GSS and other genetic prion diseases. Please click on the link to access this resource. | [
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What is (are) GM1 gangliosidosis type 1 ? ### Doctor:
GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive. | [
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What are the treatments for monilethrix ? ### Doctor:
These resources address the diagnosis or management of monilethrix: - Genetic Testing Registry: Beaded hair 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 the outlook for Gerstmann's Syndrome ? ### Doctor:
In adults, many of the symptoms diminish over time. Although it has been suggested that in children symptoms may diminish over time, it appears likely that most children probably do not overcome their deficits, but learn to adjust to them. | [
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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) Tay-Sachs Disease ? ### Doctor:
Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body. It is part of a group of genetic disorders called the GM2 gangliosidoses. Tay-Sachs and its variant form are caused by a deficiency in the enzyme hexosaminidase A. Affected children appear to develop normally until about age 6 months. Then, symptoms begin and include progressive loss of mental ability, dementia, blindness, increased startle reflex to noise, progressive loss of hearing leading to deafness, and difficulty with swallowing. Seizures may begin in the child's second year. Persons with Tay-Sachs also have "cherry-red" spots in their eyes.A much rarer form of the disorder, called late-onset Tay-Sachs disease, occurs in individuals in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. | [
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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 familial hypertrophic cardiomyopathy ? ### Doctor:
Mutations in one of several genes can cause familial hypertrophic cardiomyopathy; the most commonly involved genes are MYH7, MYBPC3, TNNT2, and TNNI3. Other genes, including some that have not been identified, may also be involved in this condition. The proteins produced from the genes associated with familial hypertrophic cardiomyopathy play important roles in contraction of the heart muscle by forming muscle cell structures called sarcomeres. Sarcomeres, which are the basic units of muscle contraction, are made up of thick and thin protein filaments. The overlapping thick and thin filaments attach to each other and release, which allows the filaments to move relative to one another so that muscles can contract. In the heart, regular contractions of cardiac muscle pump blood to the rest of the body. | [
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How to diagnose Pancreatic Neuroendocrine Tumors (Islet Cell Tumors) ? ### Doctor:
Lab tests and imaging tests are used to detect (find) and diagnose pancreatic NETs. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances, such as glucose (sugar), released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Chromogranin A test: A test in which a blood sample is checked to measure the amount of chromogranin A in the blood. | [
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What is (are) Gallbladder Cancer ? ### Doctor:
Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. Cancer of the gallbladder is rare. It is more common in women and Native Americans. Symptoms include - Jaundice (yellowing of the skin and whites of the eyes) - Pain above the stomach - Fever - Nausea and vomiting - Bloating - Lumps in the abdomen It is hard to diagnose gallbladder cancer in its early stages. Sometimes doctors find it when they remove the gallbladder for another reason. But people with gallstones rarely have gallbladder cancer. | [
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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:
Do you have information about Islet Cell Transplantation
### Doctor:
Summary : Islets are cells found in clusters throughout the pancreas. They are made up of several types of cells. One of these is beta cells, which make insulin. Insulin is a hormone that helps the body use glucose for energy. Islet cell transplantation transfers cells from an organ donor into the body of another person. It is an experimental treatment for type 1 diabetes. In type 1 diabetes, the beta cells of the pancreas no longer make insulin. A person who has type 1 diabetes must take insulin daily to live. Transplanted islet cells, however, can take over the work of the destroyed cells. The beta cells in these islets will begin to make and release insulin. Researchers hope islet transplantation will help people with type 1 diabetes live without daily insulin injections. | [
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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) juvenile Paget disease ? ### Doctor:
Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured). The signs of juvenile Paget disease appear in infancy or early childhood. As bones grow, they become progressively weaker and more deformed. These abnormalities usually become more severe during the adolescent growth spurt, when bones grow very quickly. Juvenile Paget disease affects the entire skeleton, resulting in widespread bone and joint pain. The bones of the skull tend to grow unusually large and thick, which can lead to hearing loss. The disease also affects bones of the spine (vertebrae). The deformed vertebrae can collapse, leading to abnormal curvature of the spine. Additionally, weight-bearing long bones in the legs tend to bow and fracture easily, which can interfere with standing and walking. | [
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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 Citrullinemia type I ? ### Doctor:
What are the signs and symptoms of Citrullinemia type I? Citrullinemia type I presents as a clinical spectrum that includes an acute neonatal form, a milder late-onset form, a form without symptoms and/or hyperammonemia, and a form in which women have onset of severe symptoms during pregnancy or post partum. Infants with the acute neonatal form typically appear normal at birth, but as ammonia builds up in the body they become progressively lethargic, feed poorly, vomit, and develop signs of increased intracranial pressure, which can lead to seizures and loss of consciousness. Less commonly, a milder form of citrullinemia type I can develop later in childhood or adulthood. This later-onset form is associated with intense headaches, partial loss of vision, slurred speech, problems with balance and muscle coordination (ataxia), behavior problems, and lethargy. | [
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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 Polycythemia Vera ? ### Doctor:
Primary Polycythemia
Polycythemia vera (PV) also is known as primary polycythemia. A mutation, or change, in the body's JAK2 gene is the main cause of PV. The JAK2 gene makes a protein that helps the body produce blood cells. What causes the change in the JAK2 gene isn't known. PV generally isn't inheritedthat is, passed from parents to children through genes. However, in some families, the JAK2 gene may have a tendency to mutate. Other, unknown genetic factors also may play a role in causing PV. Secondary Polycythemia
Another type of polycythemia, called secondary polycythemia, isn't related to the JAK2 gene. Long-term exposure to low oxygen levels causes secondary polycythemia. A lack of oxygen over a long period can cause your body to make more of the hormone erythropoietin (EPO). | [
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What are the symptoms of Epilepsy juvenile absence ? ### Doctor:
What are the signs and symptoms of Epilepsy juvenile absence? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy juvenile absence. 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) Absence seizures - Autosomal dominant inheritance - EEG with spike-wave complexes (>3.5 Hz) - Generalized myoclonic seizures - Generalized tonic-clonic seizures on awakening - 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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Who is at risk for Gum (Periodontal) Disease? ? ### Doctor:
There are a number of risk factors that can increase your chances of developing periodontal disease. - Smoking is one of the most significant risk factors associated with the development of gum disease and can even lower the chances for successful treatment. - Hormonal changes in women can make gums more sensitive and make it easier for gingivitis to develop. - Diabetes puts people at higher risk for developing infections, including gum disease. - Diseases like cancer or AIDS and their treatments can also affect the health of gums. - There are hundreds of prescription and over-the-counter medications that can reduce the flow of saliva, which has a protective effect on the mouth. Without enough saliva, the mouth is vulnerable to infections such as gum disease. | [
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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 What I need to know about Diarrhea ? ### Doctor:
To find the cause of diarrhea, the health care provider may
- perform a physical exam - ask about any medicines you are taking - test your stool or blood to look for bacteria, parasites, or other signs of disease or infection - ask you to stop eating certain foods to see whether your diarrhea goes away
If you have chronic diarrhea, your health care provider may perform other tests to look for signs of disease. | [
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What are the treatments for Brittle diabetes ? ### Doctor:
How might brittle diabetes be treated? The approach to management depends upon the underlying cause. General management strategies include diabetes education, frequent self-monitoring of blood glucose, the use of a continuous subcutaneous insulin pump in conjunction with a continuous glucose monitoring device, and, in rare cases, pancreas transplantation. Psychotherapy or working with a psychiatrist or psychologist is recommended for many people with brittle diabetes. Referral to a specialty center may be warranted in certain situations. | [
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What is (are) Creutzfeldt-Jakob disease ? ### Doctor:
Creutzfeldt-Jakob disease (CJD) is a rare fatal brain disorder that usually occurs later in life and runs a rapid course. In the early stages of the disease, patients may have failing memory, behavior changes, impaired coordination, and vision problems. As CJD progresses, mental deterioration becomes severe, and they can have uncontrolled movements, blindness, weakness, and go into a coma. This condition often leads to death within a few weeks or months after symptoms begin. About 90 percent of patients do not survive for more than one year. In the United States, about 300 people are diagnosed with this condition each year. It occurs in approximately one in every one million people worldwide. CJD can be very difficult to diagnose because it is similar to other forms of dementia. | [
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What are the treatments for Crohn disease ? ### Doctor:
These resources address the diagnosis or management of Crohn disease: - Genetic Testing Registry: Inflammatory bowel disease 1 - MedlinePlus Encyclopedia: Crohn's disease 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 causes Stiff person syndrome ? ### Doctor:
What causes stiff person syndrome? Scientists dont yet understand what causes stiff person syndrome, but research indicates that it is the result of an abnormal autoimmune response in the brain and spinal cord. Most people with stiff person syndrome have antibodies to glutamic acid decarboxylase (GAD), a protein in some nerve cells involved in making a substance called gamma-aminobutyric acid (GABA) that helps to control muscle movement. The symptoms of stiff person syndrome may develop when the immune system mistakenly attacks the neurons that produce GAD, leading to a deficiency of this protein in the body. The exact role that deficiency of GAD plays in the development of stiff person syndrome is not fully understood. | [
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What are the treatments for Ehlers-Danlos syndrome, kyphoscoliosis type ? ### Doctor:
How might Ehlers-Danlos syndrome, kyphoscoliosis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with hypotonia and delayed motor development. This treatment can also help improve joint stability. Assistive devices such as braces may be necessary depending on the severity of joint instability. Depending on the severity of the kyphoscoliosis (kyphosis and scoliosis), surgery may be necessary. Because EDS, kyphoscoliosis type is associated with fragile skin with abnormal wound healing, affected people, especially children, may need to wear protective bandages or pads over exposed areas, such as the knees, shins, and forehead. | [
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What are the treatments for Periventricular heterotopia ? ### Doctor:
How might periventricular nodular heterotopia be treated? Treatment of epilepsy generally follows principles for a seizure disorder caused by a known structural brain abnormality; carbamezipine is most often used, because most patients have focal seizures. However, antiepileptic drugs may be selected based on side effects, tolerability, and efficacy. It is recommended that patients with the X-linked form of the disease have studies evaluating the carotid artery and an abdominal ultrasound because of the risk for aortic or carotid dissection or other vascular anomalies. [1823] Treatment also include surgery for removal of the lesion and more recently, laser ablation guided with magnetic resonance. | [
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What causes Bronchiolitis obliterans organizing pneumonia ? ### Doctor:
What causes bronchiolitis obliterans organizing pneumonia (BOOP)? BOOP may be caused by a variety of factors, including viral infections, inhalation of toxic gases, drugs, connective tissue disorders, radiation therapy, cocaine, inflammatory bowl disease, and HIV infection. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia (COP). | [
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What are the treatments for fragile XE syndrome ? ### Doctor:
These resources address the diagnosis or management of fragile XE syndrome: - Centers for Disease Control and Prevention: Developmental Screening Fact Sheet - Genetic Testing Registry: FRAXE 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) Medullary Sponge Kidney ? ### Doctor:
Medullary sponge kidney, also known as Cacchi-Ricci disease, is a birth defect where changes occur in the tubules, or tiny tubes, inside a fetus kidneys. In a normal kidney, urine flows through these tubules as the kidney is being formed during a fetus growth. In medullary sponge kidney, tiny, fluid-filled sacs called cysts form in the tubules within the medullathe inner part of the kidneycreating a spongelike appearance. The cysts keep urine from flowing freely through the tubules. Symptoms of medullary sponge kidney do not usually appear until the teenage years or the 20s. Medullary sponge kidney can affect one or both kidneys. | [
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What is (are) Congenital deafness with vitiligo and achalasia ? ### Doctor:
Congenital deafness with vitiligo and achalasia is a syndrome characterized by deafness present from birth (congenital), associated with short stature, vitiligo, muscle wasting and achalasia (swallowing difficulties). The condition was described in a brother and sister born to first cousin parents. It is believed to be inherited in an autosomal recessive manner. | [
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What are the symptoms of 47 XXX syndrome ? ### Doctor:
What are the signs and symptoms of 47 XXX syndrome? Many women with 47 XXX syndrome have no symptoms or only mild symptoms. In other cases, symptoms may be more pronounced. Females with 47 XXX syndrome may be taller than average, but the condition usually does not cause unusual physical features. Minor physical findings can be present in some individuals and may include epicanthal folds, hypertelorism (widely spaced eyes), upslanting palpebral fissures, clinodactyly, overlapping digits (fingers or toes), pes planus (flat foot), and pectus excavatum. The condition is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), and behavioral and emotional difficulties are also possible, but these characteristics vary widely among affected girls and women. | [
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What are the symptoms of Shingles ? ### Doctor:
The first symptoms usually include burning, itching, or tingling sensations on the back, chest, or around the rib cage or waist. In other cases, it can be the face or eye area that is involved. The affected area can become extremely painful. This is when most people go to a healthcare provider to find out what is causing the pain. Some people report feeling feverish and weak during the early stages. Usually within 48 to 72 hours, a red, blotchy rash develops on the affected area. The rash erupts into small blisters that look like chickenpox. The blisters tend to be clustered in one specific area, rather than being scattered all over the body like chickenpox. The torso or face are the parts most likely to be affected, but on occasion, shingles breaks out in the lower body. | [
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what research (or clinical trials) is being done for Neurofibromatosis ? ### Doctor:
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. NINDS researchers are working to identify signaling pathways in the nervous system, with the hope of eventually developing drugs and techniques to help diagnose and treat NF. Understanding the natural history of tumors in NF and determining possible factors that may regulate their growth patterns is another aim of NIH researchers Ongoing research continues to discover additional genes that appear to play a role in NF-related tumor suppression or growth Continuing research on these genes and their proteins is beginning to reveal how this novel family of growth regulators controls how and where tumors form and grow Researchers also hope to develop new and more effective treatments for neurofibromatosis. | [
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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 Baraitser-Winter syndrome ? ### Doctor:
These resources address the diagnosis or management of Baraitser-Winter syndrome: - Gene Review: Gene Review: Baraitser-Winter Cerebrofrontofacial Syndrome - Genetic Testing Registry: Baraitser-Winter Syndrome 2 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 Maffucci syndrome ? ### Doctor:
Maffucci syndrome is very rare. Since it was first described in 1881, fewer than 200 cases have been reported worldwide. | [
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What are the treatments for Paget's Disease of Bone ? ### Doctor:
The Food and Drug Administration has approved several medications that can stop or slow down the progression of the disease and reduce pain and other symptoms. These medications fall into two categories: bisphosphonates and calcitonin. Doctors most often prescribe one of the four strongest bisphosphonates, which are risedronate, alendronate, pamidronate, and zoledronic acid. | [
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What to do for What I need to know about Gestational Diabetes ? ### Doctor:
- Gestational diabetes is a type of diabetes that develops only during pregnancy. Diabetes means your blood glucose, also called blood sugar, is too high. - Gestational diabetes happens when your body can't make enough insulin during pregnancy. Insulin is a hormone made in your pancreas, an organ located behind your stomach. Insulin helps your body use glucose for energy and helps control your blood glucose levels. - You will probably be tested for gestational diabetes between weeks 24 and 28 of your pregnancy. If you have a higher chance of getting gestational diabetes, your doctor may test you for diabetes during your first visit after you become pregnant. - If you have high blood glucose levels because your gestational diabetes is not under control, your baby will also have high blood glucose. | [
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What are the symptoms of Griscelli syndrome type 3 ? ### Doctor:
What are the signs and symptoms of Griscelli syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Griscelli syndrome 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) Generalized hypopigmentation 90% Ocular albinism 7.5% Autosomal recessive inheritance - Heterogeneous - Large clumps of pigment irregularly distributed along hair shaft - Silver-gray hair - White eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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Who is at risk for Kawasaki Disease? ? ### Doctor:
Kawasaki disease affects children of all races and ages and both genders. It occurs most often in children of Asian and Pacific Island descent. The disease is more likely to affect boys than girls. Most cases occur in children younger than 5 years old. Kawasaki disease is rare in children older than 8. | [
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What causes Binswanger's disease ? ### Doctor:
What causes Binswanger's disease? Binswanger's disease occurs when the blood vessels that supply the deep structures of the brain become obstructed (blocked). As the arteries become more and more narrowed, the blood supplied by those arteries decreases and brain tissue dies. This can be caused by atherosclerosis, thromboembolism (blood clots) and other diseases such as CADASIL. Risk factors for Binswanger's disease include: Hypertension Smoking Hypercholesterolemia Heart disease Diabetes mellitus | [
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What is the outlook for Glossopharyngeal Neuralgia ? ### Doctor:
Some individuals recover from an initial attack and never have another. Others will experience clusters of attacks followed by periods of short or long remission. Individuals may lose weight if they fear that chewing, drinking, or eating will cause an attack. | [
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Is Potocki-Shaffer syndrome inherited ? ### Doctor:
Potocki-Shaffer syndrome follows an autosomal dominant inheritance pattern, which means a deletion of genetic material from one copy of chromosome 11 is sufficient to cause the disorder. In some cases, an affected person inherits the chromosome with a deleted segment from an affected parent. More commonly, the condition results from a deletion that occurs during the formation of reproductive cells (eggs and sperm) in a parent or in early fetal development. These cases occur in people with no history of the disorder in their family. | [
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Is Benign schwannoma inherited ? ### Doctor:
Are schwannomas inherited? Most schwannomas are not inherited. The vast majority of schwannomas occur by chance (sporadically) and as a single tumor. In these cases, people typically do not have affected family members. Around 5-10% of people develop multiple schwannomas. In these cases, the schwannomas may be due to an inherited condition which can be passed from parent to child. For example, neurofibromatosis type 2 and schwannomatosis are two conditions known to cause multiple schwannomas. Both of these conditions are inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. | [
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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 Pyridoxine-dependent epilepsy ? ### Doctor:
What causes pyridoxine-dependent epilepsy? Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. 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. The ALDH7A1 gene provides instructions for making an enzyme called -aminoadipic semialdehyde (-AASA) dehydrogenase, also known as antiquitin. This enzyme is involved in the breakdown of the protein building block (amino acid) lysine in the brain. When antiquitin is deficient, a molecule that interferes with vitamin B6 function builds up in various tissues. | [
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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 Childhood Brain Stem Glioma ? ### Doctor:
Key Points
- There are different types of treatment for children with brain stem glioma. - Children with brain stem glioma should have their treatment planned by a team of health care providers who are experts in treating childhood brain tumors. - Childhood brain stem gliomas may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. - Some cancer treatments cause side effects months or years after treatment has ended. - Six types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Cerebrospinal fluid diversion - Observation - Targeted therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. | [
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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 Bannayan-Riley-Ruvalcaba syndrome ? ### Doctor:
These resources address the diagnosis or management of Bannayan-Riley-Ruvalcaba syndrome: - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) - Genetic Testing Registry: Bannayan-Riley-Ruvalcaba syndrome - University of Iowa: Bannayan-Ruvalcaba-Riley Syndrome (BRRS): A Guide for Patients and Their Families 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) Split hand foot malformation ? ### Doctor:
Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. | [
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What are the symptoms of Normophosphatemic familial tumoral calcinosis ? ### Doctor:
What are the signs and symptoms of Normophosphatemic familial tumoral calcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Normophosphatemic familial tumoral calcinosis. 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 skin - Autosomal recessive inheritance - Calcinosis - Conjunctivitis - Gingivitis - 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 is (are) Bart-Pumphrey syndrome ? ### Doctor:
Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss. People with Bart-Pumphrey syndrome typically have a white discoloration of the nails (leukonychia); the nails may also be thick and crumbly. Affected individuals often have wart-like (verrucous) skin growths called knuckle pads on the knuckles of the fingers and toes. They may also have thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). The skin abnormalities generally become noticeable during childhood. The hearing loss associated with Bart-Pumphrey syndrome ranges from moderate to profound and is typically present from birth (congenital). The signs and symptoms of this disorder may vary even within the same family; while almost all affected individuals have hearing loss, they may have different combinations of the other associated features. | [
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What are the treatments for fibrodysplasia ossificans progressiva ? ### Doctor:
These resources address the diagnosis or management of fibrodysplasia ossificans progressiva: - Genetic Testing Registry: Progressive myositis ossificans 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) Nonspherocytic hemolytic anemia due to hexokinase deficiency ? ### Doctor:
Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare condition mainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes. It can be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia. | [
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What are the treatments for Lichen planus pigmentosus ? ### Doctor:
How might lichen planus pigmentosus be treated? Treatment for lichen planus pigmentosus is generally symptomatic and may include: Topical (applied to the skin) corticosteroids Topical calcineurin inhibitors (medications that are typically used to treat eczema) Skin lightening agents Laser therapy | [
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What is (are) progressive osseous heteroplasia ? ### Doctor:
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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 Renal Artery Stenosis? ? ### Doctor:
People at risk for artherosclerosis are also at risk for RAS. Risk factors for RAS caused by artherosclerosis include
- high blood cholesterol levels - high blood pressure - smoking - insulin resistance - diabetes - being overweight or obese - lack of physical activity - a diet high in fat, cholesterol, sodium, and sugar - being a man older than 45 or a woman older than 55 - a family history of early heart disease
The risk factors for RAS caused by FMD are unknown, but FMD is most common in women and people 25 to 50 years of age.3 FMD can affect more than one person in a family, indicating that it may be caused by an inherited gene. | [
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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 Myelodysplastic Syndromes ? ### Doctor:
Key Points
- There are different types of treatment for patients with myelodysplastic syndromes. - Treatment for myelodysplastic syndromes includes supportive care, drug therapy, and stem cell transplantation. - Three types of standard treatment are used: - Supportive care - Drug therapy - Chemotherapy with stem cell transplant - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their treatment. - Follow-up tests may be needed. There are different types of treatment for patients with myelodysplastic syndromes. Different types of treatment are available for patients with myelodysplastic syndromes. | [
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What are the symptoms of Phosphoglycerate mutase deficiency ? ### Doctor:
What are the signs and symptoms of Phosphoglycerate mutase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Phosphoglycerate mutase 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) Autosomal recessive inheritance - Elevated serum creatine phosphokinase - Exercise intolerance - Exercise-induced muscle cramps - Exercise-induced myalgia - Myoglobinuria - Myopathy - Renal insufficiency - Rhabdomyolysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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What is (are) Tooth Decay ? ### Doctor:
You call it a cavity. Your dentist calls it tooth decay or dental caries. They're all names for a hole in your tooth. The cause of tooth decay is plaque, a sticky substance in your mouth made up mostly of germs. Tooth decay starts in the outer layer, called the enamel. Without a filling, the decay can get deep into the tooth and its nerves and cause a toothache or abscess. To help prevent cavities - Brush your teeth every day with a fluoride toothpaste - Clean between your teeth every day with floss or another type of between-the-teeth cleaner - Snack smart - limit sugary snacks - See your dentist or oral health professional regularly | [
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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 Paget's Disease of Bone ? ### Doctor:
Paget's disease is almost always diagnosed by x-ray, although it may be discovered using one of two other tests: an alkaline phosphatase blood test or a bone scan. Paget's disease is often found by accident when a person undergoes one of these tests for another reason. In other cases, a person experiences problems that lead his or her physician to order these tests. If Paget's disease is first suggested by an alkaline phosphatase blood test or bone scan, the physician usually orders an x-ray to verify the diagnosis. A bone scan is typically used to identify all the bones in the skeleton that are affected by the disease. | [
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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 Ichthyosis alopecia eclabion ectropion mental retardation ? ### Doctor:
What are the signs and symptoms of Ichthyosis alopecia eclabion ectropion mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis alopecia eclabion ectropion mental retardation. 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 eyelid 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Ichthyosis 90% Neurological speech impairment 90% Gait disturbance 50% Autosomal recessive inheritance - Ectropion - Intellectual disability - 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 treatments for Fitz-Hugh-Curtis syndrome ? ### Doctor:
How might Fitz-Hugh-Curtis syndrome be treated? Fitz-Hugh-Curtis syndrome (FHCS) is treated with antibiotics, given by intravenous (IV) injection or as medication taken by mouth. The specific antibiotic medication is determined by the type of underlying infection; that is, treatment depends on whether the infection is chlamydia or gonorrhea. If pain continues after treatment with antibiotics, surgery (laparoscopy) may be done to remove bands of tissue (adhesions) that connect the liver to the abdominal wall and cause pain in individuals with FHCS. | [
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What are the symptoms of Otofaciocervical syndrome ? ### Doctor:
What are the signs and symptoms of Otofaciocervical syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Otofaciocervical 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 dermatoglyphics 90% Abnormality of periauricular region 90% Abnormality of the clavicle 90% Abnormality of the palate 90% Anteverted nares 90% Cognitive impairment 90% Conductive hearing impairment 90% Depressed nasal bridge 90% Full cheeks 90% Hyperreflexia 90% Hypertonia 90% Macrotia 90% Neurological speech impairment 90% Short stature 90% Sprengel anomaly 90% Abnormality of the antihelix 50% Delayed skeletal maturation 50% Atresia of the external auditory canal 7.5% Facial asymmetry 7.5% Renal hypoplasia/aplasia 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 are the treatments for Brachial Plexus Injuries ? ### Doctor:
Some brachial plexus injuries may heal without treatment. Many children who are injured during birth improve or recover by 3 to 4 months of age. Treatment for brachial plexus injuries includes physical therapy and, in some cases, surgery. | [
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What is (are) Cluttering ? ### Doctor:
Cluttering is a disorder that affects the way a person speaks. It is characterized by a rapid speaking rate and inability to maintain normally expected sound, syllable, phrase, and pausing patterns while speaking. Other symptoms may include stuttering; language or phonological errors (problems organizing sounds); and attention deficits. The disorder seems to result from disorganized speech planning, talking too fast or in spurts, or simply being unsure of what one wants to say. Therapy generally focuses on the symptoms present in each individual and may include slowing the rate of speech and clearly producing speech sounds (articulating). Articulation and language problems are often reduced if the affected individual can achieve a slower rate of speech. | [
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What is (are) Hemolytic Uremic Syndrome in Children ? ### Doctor:
The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. Children produce less urine than adults and the amount produced depends on their age. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder. | [
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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) Thrombotic thrombocytopenic purpura, congenital ? ### Doctor:
Thrombotic thrombocytopenic purpura (TTP), congenital is a blood disorder characterized by low platelets (i.e., thrombocytopenia), small areas of bleeding under the skin (i.e., purpura), low red blood cell count, and hemolytic anemia. TTP causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause serious medical problems if they block vessels and restrict blood flow to organs such as the brain, kidneys, and heart. Resulting complications can include neurological problems (such as personality changes, headaches, confusion, and slurred speech), fever, abnormal kidney function, abdominal pain, and heart problems. Hemolytic anemia can lead to paleness, yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. | [
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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) combined malonic and methylmalonic aciduria ? ### Doctor:
Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated. The signs and symptoms of CMAMMA can begin in childhood. In some children, the buildup of acids causes the blood to become too acidic (ketoacidosis), which can damage the body's tissues and organs. Other signs and symptoms may include involuntary muscle tensing (dystonia), weak muscle tone (hypotonia), developmental delay, an inability to grow and gain weight at the expected rate (failure to thrive), low blood sugar (hypoglycemia), and coma. | [
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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 Kidney Stones in Adults ? ### Doctor:
Treatment for kidney stones usually depends on their size and what they are made of, as well as whether they are causing pain or obstructing the urinary tract. Kidney stones may be treated by a general practitioner or by a urologista doctor who specializes in the urinary tract. Small stones usually pass through the urinary tract without treatment. Still, the person may need pain medication and should drink lots of fluids to help move the stone along. Pain control may consist of oral or intravenous (IV) medication, depending on the duration and severity of the pain. IV fluids may be needed if the person becomes dehydrated from vomiting or an inability to drink. A person with a larger stone, or one that blocks urine flow and causes great pain, may need more urgent treatment, such as
- Shock wave lithotripsy. | [
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How many people are affected by Tay-Sachs disease ? ### Doctor:
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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 Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures ? ### Doctor:
What are the signs and symptoms of Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures. 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. | [
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What is (are) Large granular lymphocyte leukemia ? ### Doctor:
Large granular lymphocyte (LGL) leukemia is a rare cancer of a type of white blood cells called lymphocytes. LGL leukemia causes a slow increase in white blood cells called T lymphocytes, or T cells, which originate in the lymph system and bone marrow and help to fight infection. This disease usually affects people in their sixties. Symptoms include anemia; low levels of platelets (thrombocytopenia) and infection-fighting neutrophils (neutropenia) in the blood; and an enlarged spleen. About one-third of patients are asymptomatic at the time of diagnosis. The exact cause of LGL leukemia is unknown. Doctors can diagnose this disease through a bone marrow biopsy, or by using a specialized technique in which various types of blood or bone marrow cells are separated, identified, and counted. | [
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How to diagnose Harlequin ichthyosis ? ### Doctor:
Can harlequin ichthyosis be diagnosed before birth using amniocentesis or chorionic villus sampling? Yes, harlequin ichthyosis can be diagnosed before birth using either amniocentesis or chorionic villus sampling. Both of these procedures are used to obtain a sample of fetal DNA, which can be tested for mutations in the ABCA12 gene. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a specific genetic test should contact a health care provider or a genetics professional. | [
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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 Congenital generalized lipodystrophy type 4 ? ### Doctor:
What are the signs and symptoms of Congenital generalized lipodystrophy type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy 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) Hirsutism 5% Acanthosis nigricans - Autosomal recessive inheritance - Bradycardia - Constipation - Dysphagia - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Exercise intolerance - Failure to thrive - Feeding difficulties - Flexion contracture - Generalized muscle weakness - Hepatic steatosis - Hepatomegaly - Hyperinsulinemia - Hyperlordosis - Hypertriglyceridemia - IgA deficiency - Ileus - Infantile onset - Insulin resistance - Lipodystrophy - Muscle mounding - Muscle stiffness - Muscular dystrophy - Myalgia - Osteopenia - Osteoporosis - Prolonged QT interval - Prominent umbilicus - Proximal muscle weakness - Pyloric stenosis - Recurrent infections - Scoliosis - Skeletal muscle hypertrophy - Spinal rigidity - Splenomegaly - 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 treatments for Esthesioneuroblastoma ? ### Doctor:
How is esthesioneuroblastoma usually treated? Various treatment regimens for esthesioneuroblastoma have been used through the years. Early treatment included using either surgery or radiation therapy, but, for the most part, these regimens resulted in high rates of recurrence. Subsequently, multimodality therapy with surgery and radiation therapy has been more frequently administered, and some institutions recommend trimodality therapy, with the addition of chemotherapy to surgery and radiation therapy. Most patients are initially treated with surgical removal if possible. Radiation therapy is most commonly administered after surgical removal of the tumor. The role of chemotherapy for esthesioneuroblastoma remains poorly defined. Many institutions incorporate chemotherapy into the treatment regimen, especially for stage C disease, whereas others have not noted any substantial clinical response to chemotherapy. | [
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How many people are affected by Smith-Magenis syndrome ? ### Doctor:
Smith-Magenis syndrome affects at least 1 in 25,000 individuals worldwide. Researchers believe that many people with this condition are not diagnosed, however, so the true prevalence may be closer to 1 in 15,000 individuals. | [
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What are the genetic changes related to incontinentia pigmenti ? ### Doctor:
Mutations in the IKBKG gene cause incontinentia pigmenti. The IKBKG gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that helps protect cells from self-destructing (undergoing apoptosis) in response to certain signals. About 80 percent of affected individuals have a mutation that deletes some genetic material from the IKBKG gene. This deletion probably leads to the production of an abnormally small, nonfunctional version of the IKBKG protein. Other people with incontinentia pigmenti have mutations that prevent the production of any IKBKG protein. Without this protein, nuclear factor-kappa-B is not regulated properly, and cells are more sensitive to signals that trigger them to self-destruct. | [
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What are the treatments for Lymphomatoid papulosis ? ### Doctor:
How might lymphomatoid papulosis be treated? Localized mildly itchy skin lesions may be treated with mid- to high-potency topical steroids to hasten healing, or with more aggressive topical therapies (e.g.,phototherapy) to suppress the disease and the possibility of progression to lymphoma. Low-dose weekly methotrexate has been used to suppress the condition with some success, however the treatment effects are not lasting. Oral psoralen plus UVA phototherapy may also effectively treat and suppresses the disease. A few reports have found that following treatments may also help with disease suppression: Topical carmustine Topical nitrogen mustard Topical MTX Topical imiquimod cream Intralesional interferon Low-dose cyclophosphamide Chlorambucil Medium-dose UVA-1 therapy Excimer laser therapy Dapsone | [
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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) Ectopic Kidney ? ### Doctor:
An ectopic kidney is a birth defect in which a kidney is located below, above, or on the opposite side of its usual position. About one in 900 people has an ectopic kidney.1 | [
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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 stages of Adult Non-Hodgkin Lymphoma ? ### Doctor:
Key Points
- After adult non-Hodgkin lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. - There are three ways that cancer spreads in the body. - Stages of adult non-Hodgkin lymphoma may include E and S. - The following stages are used for adult non-Hodgkin lymphoma: - Stage I - Stage II - Stage III - Stage IV - Adult non-Hodgkin lymphomas may be grouped for treatment according to whether the cancer is indolent or aggressive and whether affected lymph nodes are next to each other in the body. After adult non-Hodgkin lymphoma has been diagnosed, tests are done to find out if cancer cells have spread within the lymph system or to other parts of the body. | [
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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) spinal muscular atrophy with respiratory distress type 1 ? ### Doctor:
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Early features of this condition are difficult and noisy breathing, especially when inhaling; a weak cry; problems feeding; and recurrent episodes of pneumonia. Typically between the ages of 6 weeks and 6 months, infants with this condition will experience a sudden inability to breathe due to paralysis of the muscle that separates the abdomen from the chest cavity (the diaphragm). Normally, the diaphragm contracts and moves downward during inhalation to allow the lungs to expand. With diaphragm paralysis, affected individuals require life-long support with a machine to help them breathe (mechanical ventilation). | [
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Subsets and Splits