umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Adams-Oliver syndrome ?

Answer: Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome.  Most people with Adams-Oliver syndrome have aplasia cutis congenita, a condition characterized by localized areas of missing skin typically occurring on the top of the head (the skull vertex). In some cases, the bone under the skin is also underdeveloped. Individuals with this condition commonly have scarring and an absence of hair growth in the affected area.  Abnormalities of the hands and feet are also common in people with Adams-Oliver syndrome. These most often involve the fingers and toes and can include abnormal nails, fingers or toes that are fused together (syndactyly), and abnormally short or missing fingers or toes (brachydactyly or oligodactyly). In some cases, other bones in the hands, feet, or lower limbs are malformed or missing.  Some affected infants have a condition called cutis marmorata telangiectatica congenita. This disorder of the blood vessels causes a reddish or purplish net-like pattern on the skin. In addition, people with Adams-Oliver syndrome can develop high blood pressure in the blood vessels between the heart and the lungs (pulmonary hypertension), which can be life-threatening. Other blood vessel problems and heart defects can occur in affected individuals.  In some cases, people with Adams-Oliver syndrome have neurological problems, such as developmental delay, learning disabilities, or abnormalities in the structure of the brain.
Question: What is (are) Leber congenital amaurosis ?

Answer: Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time.  Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all. Additionally, the clear front covering of the eye (the cornea) may be cone-shaped and abnormally thin, a condition known as keratoconus.  A specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of poking, pressing, and rubbing the eyes with a knuckle or finger. Researchers suspect that this behavior may contribute to deep-set eyes and keratoconus in affected children.  In rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. However, researchers are uncertain whether these individuals actually have Leber congenital amaurosis or another syndrome with similar signs and symptoms.  At least 13 types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.
Question: What are the genetic changes related to autosomal recessive hyper-IgE syndrome ?

Answer: AR-HIES is usually caused by mutations in the DOCK8 gene. The protein produced from this gene plays a critical role in the survival and function of several types of immune system cells. One of the protein's functions is to help maintain the structure and integrity of immune cells called T cells and NK cells, which recognize and attack foreign invaders, particularly as these cells travel to sites of infection within the body. In addition, DOCK8 is involved in chemical signaling pathways that stimulate other immune cells called B cells to mature and produce antibodies, which are specialized proteins that attach to foreign particles and germs, marking them for destruction.  DOCK8 gene mutations result in the production of little or no functional DOCK8 protein. Shortage of this protein impairs normal immune cell development and function. It is thought that T cells and NK cells lacking DOCK8 cannot maintain their shape as they move through dense spaces, such as those found within the skin. The abnormal cells die, resulting in reduced numbers of these cells. A shortage of these immune cells impairs the immune response to foreign invaders, accounting for the severe viral skin infections common in AR-HIES. A lack of DOCK8 also impairs B cell maturation and the production of antibodies. A lack of this type of immune response leads to recurrent respiratory tract infections in people with this disorder. It is unclear how DOCK8 gene mutations are involved in other features of AR-HIES, such as the elevation of IgE levels, autoimmunity, and neurological problems.  Some people with AR-HIES do not have mutations in the DOCK8 gene. The genetic cause of the condition in these individuals is unknown.
Question: What are the symptoms of Periventricular heterotopia ?

Answer: 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. Patients usually have normal intelligence, although some have mild intellectual disability. Difficulty with reading and spelling (dyslexia) has been reported in some girls with periventricular heterotopia. Less commonly, individuals with periventricular heterotopia may have more severe brain malformations, small head size (microcephaly), developmental delays, recurrent infections, blood vessel abnormalities, or other problems. In the X-linked form of periventricular nodular heterotopia, affected patients are mostly females because in males the symptoms are too serious and they die before birth. The following clinical features have been reported: seizure disorder, mental problems, heart anomalies, stomach immobility, strabismus, short fingers and dyslexia. Periventricular heterotopia may also occur in association with other conditions such as Ehlers-Danlos syndrome (Ehlers-Danlos with periventricular heterotopia) which results in extremely flexible joints, skin that stretches easily, and fragile blood vessels. In the autosomal recessive form of periventricular heterotopia the disorder is severe and may include microcephaly, severe developmental delay, and seizures beginning in infancy. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show any signs or symptoms of this condition.
Question: What causes Multiple sclerosis ?

Answer: What causes multiple sclerosis? Studies suggest that there are many factors that influence whether a person will develop multiple sclerosis (MS). The factors that contribute to its onset are multiple and may vary from person to person. The signs and symptoms of MS occur as a result of inflammation, loss of the protective nerve covering (myelin), and the breakdown of nerve cells. The most widely accepted theory is that MS begins as an autoimmune disorder, where white blood cells (lymphocytes) attack healthy tissues. Later, signs and symptoms occur as a result of abnormal activity of specific cells in the brain and spinal cord (microglial cells) and progressive injury and loss of brain and spinal cord cells. Additional theories regarding the cause of MS include chronic viral infections and genetic disease. Although many viruses, and particularly the Epstein-Barr virus, have been associated with MS, there is no specific evidence linking viruses directly to the development of MS. Still, Epstein-Barr virus infection is considered a risk factor for the disease. Certain gene changes, including ones in HLA-DRB1 are associated with an increased risk for developing multiple sclerosis. However, it is unclear exactly what role these gene changes play in the development of MS. Having a first-degree relative with MS, like a parent or sibling, does increase a persons risk for the condition (to around 2%). Learn more about gene changes and MS. Vitamin D is another area of interest. Those who are exposed to more sunlight tend to have higher levels of naturally-produced vitamin D, which is thought to support the immune function and may help protect against immune-mediated diseases like MS. Further information on the cause of MS is available at the National Multiple Sclerosis Society Web site.
Question: What are the symptoms of Inclusion body myositis ?

Answer: What are the signs and symptoms of Inclusion body myositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myositis. 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) Autoimmunity 90% EMG abnormality 90% Skeletal muscle atrophy 90% Feeding difficulties in infancy 50% Myalgia 7.5% Autosomal dominant inheritance - Dysphagia - Hyporeflexia - Inflammatory myopathy - Phenotypic variability - Proximal muscle weakness - Rimmed vacuoles - Slow progression - Sporadic - 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 Muscular fibrosis multifocal obstructed vessels ?

Answer: What are the signs and symptoms of Muscular fibrosis multifocal obstructed vessels? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular fibrosis multifocal obstructed vessels. 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) Arrhythmia 90% Cerebral calcification 90% Decreased antibody level in blood 90% Hepatomegaly 90% Limitation of joint mobility 90% Lipoatrophy 90% Skeletal muscle atrophy 90% Splenomegaly 90% Urticaria 90% 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 is (are) Pallister-Killian mosaic syndrome ?

Answer: Pallister-Killian mosaic syndrome is a disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects. The signs and symptoms of the Pallister-Killian mosaic syndrome can vary, although most documented cases of people with the syndrome have severe to profound intellectual disability and other serious health problems. Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome 12 called isochromosome 12p. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 12p is a version of chromosome 12 made up of two p arms. Cells normally have two copies of each chromosome, one inherited from each parent. In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. These cells have a total of four copies of all the genes on the p arm of chromosome 12. The extra genetic material from the isochromosome disrupts the normal course of development, causing the characteristic features of this disorder. Although Pallister-Killian mosaic syndrome is usually caused by an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases.
Question: What is (are) C1q deficiency ?

Answer: C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a protein and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a  procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.
Question: What causes Heart Attack ?

Answer: Coronary Heart Disease
                
A heart attack happens if the flow of oxygen-rich blood to a section of heart muscle suddenly becomes blocked and the heart can't get oxygen. Most heart attacks occur as a result of coronary heart disease (CHD).
                
CHD is a condition in which a waxy substance called plaque builds up inside of the coronary arteries. These arteries supply oxygen-rich blood to your heart.
                
When plaque builds up in the arteries, the condition is called atherosclerosis. The buildup of plaque occurs over many years.
                
Eventually, an area of plaque can rupture (break open) inside of an artery. This causes a blood clot to form on the plaque's surface. If the clot becomes large enough, it can mostly or completely block blood flow through a coronary artery.
                
If the blockage isn't treated quickly, the portion of heart muscle fed by the artery begins to die. Healthy heart tissue is replaced with scar tissue. This heart damage may not be obvious, or it may cause severe or long-lasting problems.
                
Coronary Artery Spasm
                
A less common cause of heart attack is a severe spasm (tightening) of a coronary artery. The spasm cuts off blood flow through the artery. Spasms can occur in coronary arteries that aren't affected by atherosclerosis.
                
What causes a coronary artery to spasm isn't always clear. A spasm may be related to:
                
Taking certain drugs, such as cocaine
                
Emotional stress or pain
                
Exposure to extreme cold
                
Cigarette smoking
Question: What is (are) Ataxia ?

Answer: Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis.
                
Most disorders that result in ataxia cause cells in the part of the brain called the cerebellum to degenerate, or atrophy. Sometimes the spine is also affected. The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a persons nervous system; neither term constitutes a specific diagnosis. Cerebellar and spinocerebellar degeneration have many different causes. The age of onset of the resulting ataxia varies depending on the underlying cause of the degeneration.
                
Many ataxias are hereditary and are classified by chromosomal location and pattern of inheritance: autosomal dominant, in which the affected person inherits a normal gene from one parent and a faulty gene from the other parent; and autosomal recessive, in which both parents pass on a copy of the faulty gene. Among the more common inherited ataxias are Friedreichs ataxia and Machado-Joseph disease. Sporadic ataxias can also occur in families with no prior history.
                
Ataxia can also be acquired. Conditions that can cause acquired ataxia include stroke, multiple sclerosis, tumors, alcoholism, peripheral neuropathy, metabolic disorders, and vitamin deficiencies.
Question: What is (are) Hemicrania Continua ?

Answer: Hemicrania continua is a chronic and persistent form of headache marked by continuous pain that varies in severity, always occurs on the same side of the face and head, and is superimposed with additional debilitating symptoms. on the continuous but fluctuating pain are occasional attacks of more severe pain. A small percentage of individuals with hemicrania continua have bilateral pain, or pain on both sides of the head. A headache is considered hemicrania continua if the person has had a one-sided daily or continuous headache of moderate intensity with occasional short, piercing head pain for more than 3 months without shifting sides or pain-free periods. The headache must also be completely responsive to treatment with the non-steroidal anti-inflammatory drug drug indomethacin. It must have at least one of the following symptoms: eye redness and/or tearing, nasal congestion and/or runny nose, ptosis (drooping eyelid) and miosis (contracture of the iris). Occasionally, individuals will also have forehead sweating and migraine symptoms, such as throbbing pain, nausea and/or vomiting, or sensitivity to light and sound. The disorder has two forms: chronic, with daily headaches, and remitting, in which headaches may occur for a period as long as 6 months and are followed by a pain-free period of weeks to months until the pain returns. Most patients experience attacks of increased pain three to five times per 24-hour cycle. This disorder is more common in women than in men. Physical exertion and alcohol use may increase the severity of headache pain in some patients. The cause of this disorder is unknown.
Question: What is (are) spondylothoracic dysostosis ?

Answer: Spondylothoracic dysostosis is a condition characterized by the malformation of the bones of the spine and ribs. The bones of the spine (vertebrae) do not develop properly, which causes them to be misshapen and abnormally joined together (fused). The ribs are also fused at the part nearest the spine (posteriorly), which gives the rib cage its characteristic fan-like or "crab" appearance in x-rays. Affected individuals have short, rigid necks and short midsections because of the bone malformations. As a result, people with spondylothoracic dysostosis have short bodies but normal length arms and legs, called short-trunk dwarfism.  The spine and rib abnormalities cause other signs and symptoms of spondylothoracic dysostosis. Infants with this condition are born with a small chest that cannot expand adequately, often leading to life-threatening breathing problems. As the lungs expand, the narrow chest forces the muscle that separates the abdomen from the chest cavity (the diaphragm) down and the abdomen is pushed out. The increased pressure in the abdomen can cause a soft out-pouching around the lower abdomen (inguinal hernia) or belly-button (umbilical hernia).  Spondylothoracic dysostosis is sometimes called spondylocostal dysostosis, a similar condition with abnormalities of the spine and ribs. The two conditions have been grouped in the past, and both are referred to as Jarcho-Levin syndrome; however, they are now considered distinct conditions.
Question: What is (are) multicentric osteolysis, nodulosis, and arthropathy ?

Answer: Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar disorder called Torg syndrome, although it is unknown whether Torg syndrome is actually part of MONA or a separate disorder caused by a mutation in a different gene.  In most cases of MONA, bone loss begins in the hands and feet, causing pain and limiting movement. Bone abnormalities can later spread to other areas of the body, with joint problems (arthropathy) occurring in the elbows, shoulders, knees, hips, and spine. Most people with MONA develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. The bone abnormalities also lead to short stature.  Many affected individuals develop subcutaneous nodules, which are firm lumps of noncancerous tissue underneath the skin, especially on the soles of the feet. Some affected individuals also have skin abnormalities including patches of dark, thick, and leathery skin. Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as "coarse."