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Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multiple pterygium syndrome Escobar type ? ### Response: How is multiple pterygium syndrome, Escobar type treated? There is currently no cure for multiple pterygium syndrome, Escobar type. As a result treatment is aimed at managing the associated symptoms. Orthopedics should be involved for issues arising from scoliosis.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Femoral facial syndrome ? ### Response: Femoral-facial syndrome is characterized by underdevelopment of the thigh bones and certain facial features, which may include upslanting eyes, short nose with a broad tip, long space between the nose and upper lip (philtrum), thin upper lip, small or underdeveloped lower jaw (micrognathia), and cleft palate.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Femoral facial syndrome ? ### Response: What are the signs and symptoms of Femoral facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Femoral facial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: Is Femoral facial syndrome inherited ? ### Response: Is femoral facial syndrome inherited? The vast majority of cases of femoral facial syndrome (FFS) have been sporadic, not inherited. When a condition is sporadic, it means that it occurs in an individual who has no history of the condition in his/her family.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mixed connective tissue disease ? ### Response: Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mixed connective tissue disease ? ### Response: What are the signs and symptoms of Mixed connective tissue disease? People with mixed connective tissue disease (MCTD) have symptoms that overlap with several connective tissue disorders, including systemic lupus erythematosus, polymyositis, scleroderma, and rheumatoid arthritis.

Below is an instruction from Human. Write a response. ### Instruction: What causes Mixed connective tissue disease ? ### Response: What causes mixed connective tissue disease? The exact underlying cause of mixed connective tissue disease (MCTD) is currently unknown. It is an autoimmune disorder, which means the immune system mistakes normal, healthy cells for those that that body should "fight off.

Below is an instruction from Human. Write a response. ### Instruction: Is Mixed connective tissue disease inherited ? ### Response: Is mixed connective tissue disease inherited? The role of genetics in the onset of mixed connective tissue disease (MCTD) is still unclear. Some people with MCTD have family members who are also affected by the condition. This suggests that in some cases, an inherited predisposition may contribute to the development of MCTD.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Mixed connective tissue disease ? ### Response: How is mixed connective tissue disease diagnosed? Mixed connective tissue disease (MCTD) is often suspected after a physical examination reveals signs and symptoms associated with the condition. The diagnosis is supported by a blood test that shows high levels of antibodies associated with MCTD.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Mixed connective tissue disease ? ### Response: How might mixed connective tissue disease be treated? There is currently no cure for mixed connective tissue disease (MCTD). However, treatments can help manage symptoms of the condition. For example, medications such as over-the-counter or prescription nonsteroidal anti-inflammatory drugs may help with inflammation and pain of the muscles or joints.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Osteochondritis dissecans ? ### Response: Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms.

Below is an instruction from Human. Write a response. ### Instruction: What causes Osteochondritis dissecans ? ### Response: What causes osteochondritis dissecans? In most cases, the exact underlying cause of osteochondritis dissecans is not completely understood. Scientists suspect that it may be due to decreased blood flow to the end of the affected bone, which may occur when repetitive episodes of minor injury and/or stress damage a bone overtime.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Osteochondritis dissecans ? ### Response: How is osteochondritis dissecans diagnosed? A diagnosis of osteochondritis dissecans is usually suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. These test may include x-rays, magnetic resonance imaging (MRI) and/or computed tomography (CT scan).

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Osteochondritis dissecans ? ### Response: How might osteochondritis dissecans be treated? The primary aim of treatment for osteochondritis dissecans is to restore normal function of the affected joint, relieve pain and prevent osteoarthritis. Treatment for the condition varies depending on many factors including the age of the affected person and the severity of the symptoms.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pseudoainhum ? ### Response: What are the signs and symptoms of Pseudoainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoainhum. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schindler disease type 1 ? ### Response: Schindler disease is an inherited condition that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type 1, also called the infantile type, is the most severe form. Babies with this condition appear healthy a birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Schindler disease type 1 ? ### Response: What are the signs and symptoms of Schindler disease type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Schindler disease type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What causes Schindler disease type 1 ? ### Response: What causes Schindler disease type 1? Schindler disease type 1 is caused by mutations in the NAGA gene. This gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase.This enzyme works in the lysosomes (compartments within cells that digest and recycle materials) to help break down complexes called glycoproteins and glycolipids (sugar molecules attached to certain proteins and fats).

Below is an instruction from Human. Write a response. ### Instruction: Is Schindler disease type 1 inherited ? ### Response: How is Schindler disease type 1 inherited? Schindler disease type 1 is inherited in an autosomal recessive pattern. This means that 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 so not show signs and symptoms of the condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dyssynergia cerebellaris myoclonica ? ### Response: What are the signs and symptoms of Dyssynergia cerebellaris myoclonica? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyssynergia cerebellaris myoclonica. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oral submucous fibrosis ? ### Response: What are the signs and symptoms of Oral submucous fibrosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Oral submucous fibrosis. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Biotinidase deficiency ? ### Response: What are the signs and symptoms of Biotinidase deficiency? The signs and symptoms of biotinidase deficiency typically appear within the first few months of life, but the age of onset varies. Children with profound biotinidase deficiency, the more severe form of the condition, may have seizures, weak muscle tone (hypotonia), breathing problems, and delayed development.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Mesomelic dwarfism cleft palate camptodactyly ? ### Response: What are the signs and symptoms of Mesomelic dwarfism cleft palate camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dwarfism cleft palate camptodactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ellis-Van Creveld syndrome ? ### Response: Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abnormalities; and congenital heart defects.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ellis-Van Creveld syndrome ? ### Response: What are the signs and symptoms of Ellis-Van Creveld syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ellis-Van Creveld syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adenoid cystic carcinoma ? ### Response: Adenoid cystic carcinoma (ACC) is a rare form of adenocarcinoma, which is cancer that begins in gladular tissues. ACC most commonly arises in the head and neck, in various parts of the major and minor salivary glands including the palate, nasopharynx, lining of the mouth, voice box (larynx) or windpipe (trachea).

Below is an instruction from Human. Write a response. ### Instruction: What causes Adenoid cystic carcinoma ? ### Response: What causes adenoid cystic carcinoma? The underlying cause of adenoid cystic carcinoma (ACC) is not yet known, and no strong genetic or environmental risk factors specific to ACC have been identified. Researchers believe that a combination of various genetic and environmental factors probably interact to ultimately cause a person to develop specific types of cancers.

Below is an instruction from Human. Write a response. ### Instruction: Is Adenoid cystic carcinoma inherited ? ### Response: Is adenoid cystic carcinoma inherited? While the underlying cause of adenoid cystic carcinoma (ACC) is not known, no strong genetic risk factors have been identified. To our knowledge, only one case of apparent familial ACC has been reported worldwide. In this case, a father and daughter were both affected with ACC of the sublingual salivary gland.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ornithine transcarbamylase deficiency ? ### Response: Ornithine transcarbamylase (OTC) deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ornithine transcarbamylase deficiency ? ### Response: What are the signs and symptoms of Ornithine transcarbamylase deficiency? Ornithine transcarbamylase (OTC) deficiency often becomes evident in the first few days of life. An infant with OTC deficiency may be lacking in energy (lethargic) or unwilling to eat, and have a poorly-controlled breathing rate or body temperature.

Below is an instruction from Human. Write a response. ### Instruction: What causes Ornithine transcarbamylase deficiency ? ### Response: What causes ornithine transcarbamylase (OTC) deficiency? Ornithine transcarbamylase (OTC) deficiency is caused by mutations in the OTC gene. OTC deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells.

Below is an instruction from Human. Write a response. ### Instruction: Is Ornithine transcarbamylase deficiency inherited ? ### Response: How is ornithine transcarbamylase (OTC) deficiency inherited? Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder. 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.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of SCARF syndrome ? ### Response: What are the signs and symptoms of SCARF syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SCARF syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Mycetoma ? ### Response: Mycetoma is a chronic infection that is caused by fungi or actinomycetes (bacteria that produce filaments, like fungi). The first symptom of the condition is generally painless swelling beneath the skin, which progresses to a nodule (lump) over several years.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hirschsprung disease polydactyly heart disease ? ### Response: What are the signs and symptoms of Hirschsprung disease polydactyly heart disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease polydactyly heart disease. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thyrotropin deficiency, isolated ? ### Response: What are the signs and symptoms of Thyrotropin deficiency, isolated? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyrotropin deficiency, isolated. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Van Buchem disease type 2 ? ### Response: What are the signs and symptoms of Van Buchem disease type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Buchem disease type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Maturity-onset diabetes of the young, type 7 ? ### Response: What are the signs and symptoms of Maturity-onset diabetes of the young, type 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 7. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dentin dysplasia, type 1 ? ### Response: What are the signs and symptoms of Dentin dysplasia, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dentin dysplasia, type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypothalamic dysfunction ? ### Response: Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypothalamic dysfunction ? ### Response: What are the signs and symptoms of hypothalamic dysfunction? The signs and symptoms of hypothalamic dysfunction may vary from person to person depending on the specific hormones missing. You can read more by visiting the following link from MedlinePlus. http://www.

Below is an instruction from Human. Write a response. ### Instruction: What causes Hypothalamic dysfunction ? ### Response: What causes hypothalamic dysfunction? Hypothalamic dysfunction may be caused by any of the following : Birth defects of the brain or hypothalamus (e.g. holoprosencephaly, septo-optic dysplasia) Genetic disorders (e.g. Prader-Willi syndrome, growth hormone deficiency) Eating disorders (e.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hypothalamic dysfunction ? ### Response: How might hypothalamic dysfunction be treated? Treatment is based on the specific cause of the hypothalamic dysfunction. For instance, if the condition is caused by a tumor, radiation and/or surgery may be warranted. If the hypothalamic dysfunction is caused by a hormone deficiency, the condition might be treated with hormone supplementation.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Camurati-Engelmann disease ? ### Response: Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Camurati-Engelmann disease ? ### Response: What are the signs and symptoms of Camurati-Engelmann disease? People with Camurati-Engelmann disease have increased bone density, particularly affecting the long bones of the arms and legs (tibia, femur, humerus, ulna, radius). In some cases, the skull and hip bones are also affected.

Below is an instruction from Human. Write a response. ### Instruction: Is Camurati-Engelmann disease inherited ? ### Response: How is Camurati-Engelmann disease inherited? Camurati-Engelmann disease is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Camurati-Engelmann disease ? ### Response: How is Camurati-Engelmann disease diagnosed? Diagnosis of Camurati-Engelmann disease is based on physical examination and radiographic findings and can be confirmed by molecular genetic testing. TGFB1 is the only gene known to be associated with Camurati-Engelmann disease.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Camurati-Engelmann disease ? ### Response: How might Camurati-Engelmann disease (CED) be treated? Several medical therapies including corticosteroids, biphosphonates, and non-steroidal anti-inflammatory drugs (NSAIDs) have been used to manage the symptoms of Camurati-Engelmann disease (CED). NSAIDs and bisphosphonates have not been proven to be effective for most people with CED.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Periventricular heterotopia ? ### Response: Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during the early development of the fetal brain from about the 6th week to the 24th week of pregnancy. Affected people typically develop recurrent seizures (epilepsy) beginning in mid-adolescence.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Periventricular heterotopia ? ### Response: What are the signs and symptoms of periventricular nodular heterotopia? The condition is first noticed when seizures appear, often during the teenage years. The nodules around the ventricles are then typically discovered when magnetic resonance imaging (MRI) studies are done.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Periventricular heterotopia ? ### Response: 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.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hermansky-Pudlak syndrome ? ### Response: Hermansky-Pudlak syndrome is a multisystem, genetic condition characterized by blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Long-term sun exposure greatly increases the risk of skin damage and skin cancers.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hermansky-Pudlak syndrome ? ### Response: What are the signs and symptoms of Hermansky-Pudlak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hermansky-Pudlak syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schistosomiasis ? ### Response: Schistosomiasis is a disease caused by parasitic worms. Although the worms that cause schistosomiasis are not found in the United States, more than 200 million people are infected worldwide. Infection occurs through contact with contaminated water. The parasite in its infective stages is called a cercaria.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Schistosomiasis ? ### Response: What are the signs and symptoms of Schistosomiasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Schistosomiasis. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Schistosomiasis ? ### Response: How is schistosomiasis diagnosed? Examination of stool and/or urine for ova is the primary method of diagnosis for schistosomiasis. The choice of sample depends on the suspected species, which may be determined by careful review of travel and residence history.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Herpes simplex encephalitis ? ### Response: Herpes simplex encephalitis is a rare neurological condition that is characterized by inflammation of the brain (encephalitis). People affected by this condition may experience a headache and fever for up to 5 days, followed by personality and behavioral changes; seizures; hallucinations; and altered levels of consciousness.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microphthalmia syndromic 6 ? ### Response: What are the signs and symptoms of Microphthalmia syndromic 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 6. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Spina bifida occulta ? ### Response: Spina bifida occulta (SBO) occurs when the bones of the spinal column do not completely close around the developing nerves of the spinal cord. In most cases SBO causes no symptoms, however cases associated with back and urogenital problems have been reported.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spina bifida occulta ? ### Response: What are the signs and symptoms of Spina bifida occulta? The Human Phenotype Ontology provides the following list of signs and symptoms for Spina bifida occulta. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Afibrinogenemia ? ### Response: Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or factor I), which is needed for the blood to clot.

Below is an instruction from Human. Write a response. ### Instruction: What causes Afibrinogenemia ? ### Response: What causes afibrinogenemia? Afibrinogenemia is caused by a severe lack of fibrinogen (coagulation factor I), a protein in the blood that is essential in the blood clotting (coagulation) process. This defect in fibrinogen synthesis can result from mutations in one or another of the fibrinogen genes alpha (FGA), beta (FGB) or gamma (FGG).

Below is an instruction from Human. Write a response. ### Instruction: Is Afibrinogenemia inherited ? ### Response: Is afibrinogenemia an inherited condition? Afibrinogenemia is inherited in an autosomal recessive manner, meaning that in order to be affected, an individual must have inherited two abnormal genes, one from each parent. The offspring of an individual with afibrinogenemia are obligate heterozygotes (carriers) for a disease-causing mutation in one of the fibrinogen genes.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Carpenter syndrome ? ### Response: Carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Carpenter syndrome ? ### Response: What are the signs and symptoms of Carpenter syndrome? The signs and symptoms of Carpenter syndrome can vary greatly, even within members of the same family. The main features include premature closure of certain skull bones (craniosynostosis), distinctive facial characteristics, and/or abnormalities of the fingers and toes (digits).

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cutaneous mastocytoma ? ### Response: What are the signs and symptoms of Cutaneous mastocytoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cutaneous mastocytoma. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spastic ataxia Charlevoix-Saguenay type ? ### Response: What are the signs and symptoms of Spastic ataxia Charlevoix-Saguenay type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic ataxia Charlevoix-Saguenay type. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Amyotrophic lateral sclerosis ? ### Response: Amyotrophic lateral sclerosis (ALS), also referred to as "Lou Gehrig's disease," is a progressive motor neuron disease which leads to problems with muscle control and movement. There are various types of ALS, which are distinguished by their signs and symptoms and their cause.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amyotrophic lateral sclerosis ? ### Response: What are the signs and symptoms of Amyotrophic lateral sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What causes Amyotrophic lateral sclerosis ? ### Response: What causes amyotrophic lateral sclerosis? In approximately 90-95% of cases the cause of amyotrophic lateral sclerosis (ALS) is unknown and is sporadic (occurring in individuals with no history of the condition in the family). The remaining 5-10% of cases are genetic (familial), often occurring in individuals with a family history of the condition.

Below is an instruction from Human. Write a response. ### Instruction: Is Amyotrophic lateral sclerosis inherited ? ### Response: Is amyotrophic lateral sclerosis (ALS) inherited? About 90-95% percent of cases of ALS are not inherited and occur in individuals with no history of the condition in their family. The remaining 5-10% of cases are familial, and are thought to be caused by mutations in any one of several genes.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Amyotrophic lateral sclerosis ? ### Response: Is genetic testing available for amyotrophic lateral sclerosis? Yes. Clinical genetic testing is currently available for several genes in which mutations are known to cause ALS. Genetic testing on a research basis is also available for select susceptibility genes associated with ALS.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Amyotrophic lateral sclerosis ? ### Response: How might amyotrophic lateral sclerosis (ALS) be treated? The Food and Drug Administration (FDA) has approved the first drug treatment for the diseaseriluzole (Rilutek). Riluzole is believed to reduce damage to motor neurons by decreasing the release of glutamate.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ichthyosis prematurity syndrome ? ### Response: What are the signs and symptoms of Ichthyosis prematurity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis prematurity syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Trigeminal neuralgia ? ### Response: Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Trigeminal neuralgia ? ### Response: What are the signs and symptoms of Trigeminal neuralgia? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigeminal neuralgia. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Trigeminal neuralgia ? ### Response: How might trigeminal neuralgia be treated? Treatment options include medicines, surgery, and complementary approaches. Anticonvulsant medicinesused to block nerve firingare generally effective in treating trigeminal neuralgia. These drugs include carbamazepine, oxcarbazepine, topiramate, clonazepam, phenytoin, lamotrigine, and valproic acid.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Inclusion body myopathy 2 ? ### Response: Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (HIBM), GNE-related myopathy, distal myopathy with rimmed vacuoles, and Nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move).

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Inclusion body myopathy 2 ? ### Response: What are the signs and symptoms of Inclusion body myopathy 2? Inclusion body myopathy 2 causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.The first sign of inclusion body myopathy 2 is often weakness of the tibialis anterior, a muscle in the lower leg that helps control up-and-down movement of the foot.

Below is an instruction from Human. Write a response. ### Instruction: What causes Inclusion body myopathy 2 ? ### Response: What causes inclusion body myopathy 2? Inclusion body myopathy 2 is caused by mutations in the GNE gene. The GNE gene provides instructions for making an enzyme responsible for making sialic acid, a simple sugar that attaches to the ends of more complex molecules on the surface of cells.

Below is an instruction from Human. Write a response. ### Instruction: Is Inclusion body myopathy 2 inherited ? ### Response: How is inclusion body myopathy 2 inherited? Inclusion body myopathy 2 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.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Inclusion body myopathy 2 ? ### Response: How might inclusion body myopathy 2 be treated? Currently, there is no cure and no way to prevent the progression of a Inclusion body myopathy 2.[5665] Treatment is focused on managing individual symptoms. People with this condition are often evaluated and managed by a multidisciplinary team including neurologists and physiatrists, as well as physical and occupational therapists.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pars planitis ? ### Response: Pars planitis is a disease of the eye that is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pars planitis ? ### Response: What are the signs and symptoms of pars planitis? Pars planitis is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss.

Below is an instruction from Human. Write a response. ### Instruction: What causes Pars planitis ? ### Response: What causes pars planitis? The exact underlying cause of pars planitis is unknown. Scientists suspect that it is an autoimmune condition in which the body's immune system mistakenly attacks healthy tissues (certain parts of the eyes, in this case). This is further supported by the fact that pars planitis is sometimes associated with other autoimmune conditions such as multiple sclerosis and sarcoidosis.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pars planitis ? ### Response: How is pars planitis diagnosed? Pars planitis is typically diagnosed based on a specialized eye examination. During the exam, the ophthalmologist will typically see clusters of white blood cells trapped within the eyeball that are called snowballs (or "inflammatory exudate").

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pars planitis ? ### Response: How might pars planitis be treated? The first approach to treating pars planitis is corticosteroid eye drops or injections near the eye to control inflammation. Non-steroidal anti-inflammatory drugs (NSAIDs, including aspirin) or steroid medications (such as prednisone) can be taken by mouth.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Myelomeningocele ? ### Response: Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus).

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Myelomeningocele ? ### Response: How might myelomeningocele be treated? A child with meningomyelocele usually has surgery to close the myelomenigocele shortly after birth. This prevents infections and helps save the spinal cord from more damage.[5181] Children who also have hydrocephalus may need a ventricular peritoneal shunt placed.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Thiamine responsive megaloblastic anemia syndrome ? ### Response: Thiamine-responsive megaloblastic anemia syndrome is a very rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Affected individuals begin to show symptoms of this condition between infancy and adolescence.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Thiamine responsive megaloblastic anemia syndrome ? ### Response: What are the signs and symptoms of Thiamine responsive megaloblastic anemia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thiamine responsive megaloblastic anemia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Liver failure acute infantile ? ### Response: What are the signs and symptoms of Liver failure acute infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Liver failure acute infantile. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hamanishi Ueba Tsuji syndrome ? ### Response: What are the signs and symptoms of Hamanishi Ueba Tsuji syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hamanishi Ueba Tsuji syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Adult-onset vitelliform macular dystrophy ? ### Response: Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging the cells.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Adult-onset vitelliform macular dystrophy ? ### Response: What are the signs and symptoms of Adult-onset vitelliform macular dystrophy? Signs and symptoms of adult-onset vitelliform macular dystrophy typically begin during mid-adulthood, in the fourth or fifth decade of life. At the time of diagnosis, individuals may have minimal visual symptoms (such as mild blurring) or mild metamorphopsia (distorted vision).

Below is an instruction from Human. Write a response. ### Instruction: What causes Adult-onset vitelliform macular dystrophy ? ### Response: What causes adult-onset vitelliform dystrophy? Historically, adult-onset vitelliform macular dystrophy (AVMD) was defined as a genetic disorder; however, recent studies have concluded that only a minority of cases have an identified genetic cause, suggesting that there might be other underlying causes of environmental origin, genetic origin, or a mix of genetics and environment (multifactorial).

Below is an instruction from Human. Write a response. ### Instruction: Is Adult-onset vitelliform macular dystrophy inherited ? ### Response: How is adult-onset vitelliform macular dystrophy inherited? The majority of cases with an identified family history or genetic cause are inherited in an autosomal dominant manner. This means that in order to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Adult-onset vitelliform macular dystrophy ? ### Response: How might adult-onset vitelliform macular dystrophy be treated? Management for this condition should include a comprehensive eye examination, including dilation, once or twice a year to rule out any possible complications. If vision is impaired, patients should be referred for low vision testing and rehabilitation.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial amyloidosis, Finnish type ? ### Response: Familial amyloidosis, Finnish type, or gelsolin amyloidosis, is a condition characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin. The 3 main features are amyloid deposits in the cornea (corneal lattice dystrophy), bilateral facial paralysis, and cutis laxa ("sagging" skin).

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 8q deletion ? ### Response: Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved.