umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Hypertonia ?

Answer: Hypertonia is a condition in which there is too much muscle tone so that arms or legs, for example, are stiff and difficult to move. Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscle to contract. Hypertonia happens when the regions of the brain or spinal cord that control these signals are damaged. This can occur for many reasons, such as a blow to the head, stroke, brain tumors, toxins that affect the brain, neurodegenerative processes such as in multiple sclerosis or Parkinson's disease, or neurodevelopmental abnormalities such as in cerebral palsy.
                
Hypertonia often limits how easily the joints can move. If it affects the legs, walking can become stiff and people may fall because it is difficult for the body to react quickly enough to regain balance. If hypertonia is severe, it can cause a joint to become "frozen," which doctors call a joint contracture.
                
Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses.
                
Rigidity is another type of hypertonia in which the muscles have the same amount of stiffness independent of the degree of movement. Rigidity usually occurs in diseases such as Parkinson's disease, that involve the basal ganglia (a deep region of the brain). To distinguish these types of hypertonia, a doctor will as the patient to relax and then will move the arm or leg at different speeds and in a variety of directions.
Question: What is (are) Mucolipidoses ?

Answer: The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the bodys ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells. Because our cells are not able to handle such large amounts of these substances, damage to the cells occurs, causing symptoms that range from mild learning disabilities to severe intellectual impairment and skeletal deformities.
                
The group includes four diseases:
                
- Mucolipidosis I (sialidosis)  - Mucolipidosis II (inclusion-cell, or I-cell, disease)  - Mucolipidosis III (pseudo-Hurler polydystrophy)  - Mucolipidosis IV
                
The MLs are classified as lysosomal storage diseases because they involve increased storage of substances in the lysosomes, which are specialized sac-like components within most cells. Individuals with ML are born with a genetic defect in which their bodies either do not produce enough enzymes or, in some instances, produce ineffective forms of enzymes. Without functioning enzymes, lysosomes cannot break down carbohydrates and lipids and transport them to their normal destination. The molecules then accumulate in the cells of various tissues in the body, leading to swelling and damage of organs.
                
The mucolipidoses occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry a defective gene, each of their children faces a one in four chance of developing one of the MLs.
Question: What are the complications of Neurological Complications of AIDS ?

Answer: AIDS is primarily an immune system disorder caused by the human immunodeficiency virus (HIV), but it can also affect the nervous system. HIV does not appear to directly invade nerve cells but it jeopardizes their health and function, causing symptoms such as confusion, forgetfulness, behavioral changes, headaches, progressive weakness and loss of sensation in the arms and legs, cognitive motor impairment, or damage to the peripheral nerves. Other complications that can occur as a result of HIV infection or the drugs used to treat it include pain, seizures, shingles, spinal cord problems, lack of coordination, difficult or painful swallowing, anxiety disorder, depression, fever, vision loss, gait disorders, destruction of brain tissue, and coma. Other AIDS-related nervous system disorders may be caused by certain cancers or by illnesses that would not otherwise affect people with healthy immune systems.
                
Among the most common neurological complications are: AIDS dementia complex, causing symptoms such as encephalitis (inflammation of the brain), behavioral changes, and a gradual decline in cognitive function; central nervous system lymphomas, cancerous tumors that either begin in the brain or result from a cancer that has spread from another site in the body; cryptococcal meningitis; cytomegalovirus infections; herpes virus infections; neuropathy; neurosyphilis; progressive multifocal leukoencephalopathy (PML); and psychological and neuropsychiatric disorders.
Question: What is (are) infantile-onset spinocerebellar ataxia ?

Answer: Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during the first year of life. During early childhood, however, they begin experiencing difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); involuntary writhing movements of the limbs (athetosis); and decreased reflexes. By their teenage years affected individuals require wheelchair assistance.  People with IOSCA often develop problems with the autonomic nervous system, which controls involuntary body functions. As a result, they may experience excessive sweating, difficulty controlling urination, and severe constipation.  IOSCA also leads to vision and hearing problems that begin by about age 7. Children with this disorder develop weakness in the muscles that control eye movement (ophthalmoplegia). In their teenage years they experience degeneration of the nerves that carry information from the eyes to the brain (optic atrophy), which can result in vision loss. Hearing loss caused by nerve damage (sensorineural hearing loss) typically occurs during childhood and progresses to profound deafness.  Individuals with IOSCA may have recurrent seizures (epilepsy). These seizures can lead to severe brain dysfunction (encephalopathy).  Most people with IOSCA survive into adulthood. However, a few individuals with IOSCA have an especially severe form of the disorder involving liver damage and encephalopathy that develops during early childhood. These children do not generally live past age 5.
Question: What are the genetic changes related to isolated lissencephaly sequence ?

Answer: Mutations in the PAFAH1B1, DCX, or TUBA1A gene can cause ILS. PAFAH1B1 gene mutations are responsible for over half of ILS cases; DCX gene mutations cause about 10 percent of cases; and TUBA1A gene mutations cause a small percentage of ILS. These genes provide instructions for making proteins that are involved in the movement (migration) of nerve cells (neurons) to their proper locations in the developing brain. Neuronal migration is dependent on cell structures called microtubules. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules form scaffolding within the cell that elongates in a specific direction, altering the cytoskeleton and moving the neuron. The protein produced from the TUBA1A gene is a component of microtubules. The proteins produced from the DCX and PAFAH1B1 genes promote neuronal migration by interacting with microtubules.  Mutations in any of these three genes impair the function of microtubules and the normal migration of neurons during fetal development. As a result, the layers of the cerebral cortex are disorganized and the normal folds and grooves of the brain do not form. This impairment of brain development leads to the smooth brain appearance and the resulting neurological problems characteristic of ILS.  Some individuals with ILS do not have an identified mutation in any of these three genes; the cause of the condition in these individuals may be unidentified mutations in other genes that affect neuronal migration or other unknown factors.
Question: What are the symptoms of L-arginine:glycine amidinotransferase deficiency ?

Answer: What are the signs and symptoms of L-arginine:glycine amidinotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for L-arginine:glycine amidinotransferase 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) Gowers sign 5% Abnormality of creatine metabolism - Autism - Autosomal recessive inheritance - Delayed speech and language development - Failure to thrive - Infantile onset - Intellectual disability - Organic aciduria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Guanidinoacetate methyltransferase deficiency ?

Answer: What are the signs and symptoms of Guanidinoacetate methyltransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Guanidinoacetate methyltransferase 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) Ataxia - Autosomal recessive inheritance - Delayed speech and language development - Hyperreflexia - Hypertonia - Infantile muscular hypotonia - Intellectual disability - Myoclonus - Progressive extrapyramidal movement disorder - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Rippling muscle disease, 1 ?

Answer: What are the signs and symptoms of Rippling muscle disease, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Rippling muscle disease, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - EMG abnormality - Exercise-induced muscle cramps - Exercise-induced muscle stiffness - Exercise-induced myalgia - Muscle hyperirritability - Muscle mounding - Percussion-induced rapid rolling muscle contractions (PIRC) - Skeletal muscle hypertrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Diffuse palmoplantar keratoderma, Bothnian type ?

Answer: What are the signs and symptoms of Diffuse palmoplantar keratoderma, Bothnian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse palmoplantar keratoderma, Bothnian type. 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) Palmoplantar keratoderma 90% Abnormal blistering of the skin 50% Pruritus 50% Skin ulcer 50% Autosomal dominant inheritance - Diffuse palmoplantar keratoderma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Dykes Markes Harper syndrome ?

Answer: What are the signs and symptoms of Dykes Markes Harper syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dykes Markes Harper 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) Developmental regression 90% Gait disturbance 90% Hepatomegaly 90% Ichthyosis 90% Incoordination 90% Neurological speech impairment 90% Splenomegaly 90% Ataxia - Autosomal recessive inheritance - Dysarthria - Hepatosplenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the genetic changes related to adenosine monophosphate deaminase deficiency ?

Answer: Mutations in the AMPD1 gene cause AMP deaminase deficiency. The AMPD1 gene provides instructions for producing an enzyme called AMP deaminase. This enzyme is found in skeletal muscle, where it plays a role in producing energy within muscle cells. Mutations in the AMPD1 gene disrupt the function of AMP deaminase and impair the muscle cells' ability to produce energy. This lack of energy can lead to myalgia or other muscle problems associated with AMP deaminase deficiency.  The three types of AMP deaminase deficiency are known as the inherited type, acquired type, and coincidental inherited type.  Individuals with the inherited type have a mutation in both copies of the AMPD1 gene in each cell. Most people are asymptomatic, meaning they have no symptoms. Some people with AMP deaminase deficiency experience muscle weakness or pain following exercise.  The acquired type occurs in people who have decreased levels of AMP deaminase due to the presence of a muscle or joint condition.  People with the coincidental inherited type have a mutation in both copies of the AMPD1 gene. Additionally, they have a separate joint or muscle disorder. Some individuals experience more severe joint or muscle symptoms related to their disorder if they have AMP deaminase deficiency than do people without this enzyme deficiency. Most, however, do not have any symptoms associated with AMP deaminase deficiency.  It is not known why most people with this condition do not experience symptoms. Researchers speculate that additional mutations in other genes may be involved.
Question: What is (are) early-onset glaucoma ?

Answer: Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.  In most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes.  Usually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity.  Structural abnormalities that impede fluid drainage in the eye may be present at birth and usually become apparent during the first year of life. Such abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 5 without other associated abnormalities, it is called primary congenital glaucoma.  Other individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.
Question: What is (are) X-linked agammaglobulinemia ?

Answer: X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. People with XLA have very few B cells, which are specialized white blood cells that help protect the body against infection. B cells can mature into the cells that produce special proteins called antibodies or immunoglobulins. Antibodies attach to specific foreign particles and germs, marking them for destruction. Individuals with XLA are more susceptible to infections because their body makes very few antibodies.  Children with XLA are usually healthy for the first 1 or 2 months of life because they are protected by antibodies acquired before birth from their mother. After this time, the maternal antibodies are cleared from the body, and the affected child begins to develop recurrent infections. In children with XLA, infections generally take longer to get better and then they come back again, even with antibiotic medications. The most common bacterial infections that occur in people with XLA are lung infections (pneumonia and bronchitis), ear infections (otitis), pink eye (conjunctivitis), and sinus infections (sinusitis). Infections that cause chronic diarrhea are also common. Recurrent infections can lead to organ damage. People with XLA can develop severe, life-threatening bacterial infections; however, affected individuals are not particularly vulnerable to infections caused by viruses. With treatment to replace antibodies, infections can usually be prevented, improving the quality of life for people with XLA.
Question: What are the genetic changes related to ulcerative colitis ?

Answer: A variety of genetic and environmental factors are likely involved in the development of ulcerative colitis. Recent studies have identified variations in dozens of genes that may be linked to ulcerative colitis; however, the role of these variations is not completely understood. Researchers speculate that this condition may result from changes in the intestinal lining's protective function or an abnormal immune response to the normal bacteria in the digestive tract, both of which may be influenced by genetic variations.  Several of the genes that may be associated with ulcerative colitis are involved in the protective function of the intestines. The inner surface of the intestines provides a barrier that protects the body's tissues from the bacteria that live in the intestines and from toxins that pass through the digestive tract. Researchers speculate that a breakdown of this barrier allows contact between the intestinal tissue and the bacteria and toxins, which can trigger an immune reaction. This immune response may lead to chronic inflammation and the digestive problems characteristic of ulcerative colitis.  Other possible disease-associated genes are involved in the immune system, particularly in the maturation and function of immune cells called T cells. T cells identify foreign substances and defend the body against infection. Certain genetic variations may make some individuals more prone to an overactive immune response to the bacteria and other microbes in the intestines, which may cause the chronic inflammation that occurs in ulcerative colitis. Another possible explanation is that ulcerative colitis occurs when the immune system malfunctions and attacks the cells of the intestines, causing inflammation.