sarnsrun/medquad huggingface dataset:
Topic: Pyridoxine-dependent epilepsy
Question: What causes Pyridoxine-dependent epilepsy ?
Answer: 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. Pyridoxine plays a role in many processes in the body, such as the breakdown of amino acids and the productions of chemicals that transmit signals in the brain (neurotransmitters). It is unclear how a lack of pyridoxine causes the seizures that are characteristic of this condition. Some individuals with pyridoxine-dependent epilepsy do not have identified mutations in the ALDH7A1 gene. In these cases, the cause of the condition is unknown.
Source: GARD
Topic: Pyridoxine-dependent epilepsy
Question: What are the treatments for Pyridoxine-dependent epilepsy ?
Answer: How might pyridoxine-dependent epilepsy be treated? Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). Recent studies have focused on using a lysine-restricted diet in addition to pyridoxine. Preliminary results suggest that this treatment has the potential to help control seizures and improve developmental outcomes in children with pyridoxine-dependent epilepsy.
Source: GARD
Topic: Multifocal motor neuropathy
Question: What is (are) Multifocal motor neuropathy ?
Answer: Multifocal motor neuropathy (MMN) is a rare neuropathy characterized by progressive, asymmetric muscle weakness and atrophy (wasting). Signs and symptoms include weakness in the hands and lower arms; cramping; involuntary contractions or twitching; and atrophy of affected muscles. MMN is thought to be due to an abnormal immune response, but the underlying cause is not clear. Most people treated with intravenous immune globulin (IVIG) have rapid improvement in weakness, but maintenance IVIG is usually required for sustained improvement.
Source: GARD
Topic: Multifocal motor neuropathy
Question: What are the symptoms of Multifocal motor neuropathy ?
Answer: What are the signs and symptoms of multifocal motor neuropathy? Signs and symptoms of multifocal motor neuropathy (MMN) may include weakness; cramping; involuntary contractions or twitching; and wasting (atrophy) of affected muscles. Atrophy occurs late in the course of the condition. Muscles of the hands and lower arms are most commonly affected, but muscles of the lower limbs may also be involved. The symptoms are often asymmetrical, meaning that they differ on the right and left side of the body.
Source: GARD
Topic: Multifocal motor neuropathy
Question: What causes Multifocal motor neuropathy ?
Answer: What causes multifocal motor neuropathy? The exact underlying cause of multifocal motor neuropathy (MMN) is poorly understood. It is considered an immune-mediated disorder (due to an abnormal immune system response), both because IVIG therapy improves symptoms, and many patients have anti-GM1 antibodies. Research to further understand the cause of MMN is underway.
Source: GARD
Topic: Multifocal motor neuropathy
Question: Is Multifocal motor neuropathy inherited ?
Answer: Is multifocal motor neuropathy inherited? We are not aware of any evidence that multifocal motor neuropathy (MMN) is inherited or of any reports of familial cases (occurring in more than one person in a family). Furthermore, to our knowledge, no specific genes known to be associated with MMN have been identified.
Source: GARD
Topic: Multifocal motor neuropathy
Question: What are the treatments for Multifocal motor neuropathy ?
Answer: How might multifocal motor neuropathy be treated? Multifocal motor neuropathy (MMN) is considered treatable with intravenous immune globulin (IVIG). Early treatment shortly after symptoms begin is recommended. Most people have a fairly rapid improvement in weakness with IVIG, but the improvement generally does not last beyond a few months. Maintenance IVIG infusions are usually needed every two to six weeks. For those with severe disease whose symptoms don't respond to IVIG (or for those who become resistant), treatment options are limited. Several reports have suggested that cyclophosphamide may be partially effective.
Source: GARD
Topic: Postural orthostatic tachycardia syndrome
Question: What is (are) Postural orthostatic tachycardia syndrome ?
Answer: Postural orthostatic tachycardia syndrome (POTS) is a rare condition that is primarily characterized by orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). Orthostatic Intolerance is generally associated with lightheadedness and/or fainting that is typically relieved by lying down again. In people with POTS, these symptoms are also accompanied by a rapid increase in heartbeat. Although POTS can affect men and women of all ages, most cases are diagnosed in women between the ages of 15 and 50. The exact underlying cause of POTS is currently unknown. However, episodes often begin after a pregnancy, major surgery, trauma, or a viral illness and may increase right before a menstrual period. Treatment aims to relieve low blood volume and/or regulate circulatory problems that could be causing the condition.
Source: GARD
Topic: Postural orthostatic tachycardia syndrome
Question: What are the symptoms of Postural orthostatic tachycardia syndrome ?
Answer: What are the signs and symptoms of postural orthostatic tachycardia syndrome? Postural orthostatic tachycardia syndrome (POTS) is primarily characterized by orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). Orthostatic Intolerance is generally associated with lightheadedness and/or fainting that is typically relieved by lying down again. In people with POTS, these symptoms are also accompanied by a rapid increase in heartbeat. Other symptoms reported in POTS include: Visual changes (i.e. blurry vision) Throbbing of the head Poor concentration Tiredness Gastrointestinal symptoms (i.e. nausea, cramps, bloating, constipation, diarrhea) Shortness of breath Head, neck and/or chest discomfort Weakness Sleep disorders Exercise intolerance Sweating Anxiety
Source: GARD
Topic: Postural orthostatic tachycardia syndrome
Question: What causes Postural orthostatic tachycardia syndrome ?
Answer: What causes postural orthostatic tachycardia syndrome? The underlying cause of postural orthostatic tachycardia syndrome (POTS) is poorly understood. However, episodes often begin after a pregnancy, major surgery, trauma, or a viral illness and may increase right before a menstrual period. Many researchers suspect that there may be more than one cause for the condition. The following abnormalities can be associated with POTS and may play a role in the development of the condition: Peripheral denervation - reduced nerve stimulation to certain muscles. The lower extremities are generally most affected in people with POTS. Hypovolemia - an abnormal decrease or redistribution of blood in the body Changes in venous function - more specifically, a reduction in the volume of blood that returns to the heart (venous return) when moving from a lying down to a standing position Cardiovascular deconditioning - changes in cardiovascular function Baroreflex abnormalities - the baroreflexes play an important role in blood pressure regulation. When they sense a change in blood pressure, the heart rate is adjusted and the sympathetic nerve system fibers are activated to cause the blood vessels to narrow. Increased activity of the sympathetic nervous system Although most cases of POTS appear to occur sporadically in people with no family history of the condition, some affected people report a family history of orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). This suggests that genetic factors may play a role in the development of POTS in some cases. Some studies also suggest that polymorphisms in certain genes (NOS3, ADRB2) may be associated with an increased risk of developing the condition and a change (mutation) in the norepinephrine transporter gene (SLC6A2) has been identified in one family with POTS.
Source: GARD
Topic: Postural orthostatic tachycardia syndrome
Question: Is Postural orthostatic tachycardia syndrome inherited ?
Answer: Is postural orthostatic tachycardia syndrome inherited? Most cases of postural orthostatic tachycardia syndrome (POTS) are not thought to be inherited. Although the condition generally occurs sporadically, some people with POTS do report a family history of orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). This suggests that inherited factors may play a role in the development of POTS in some families.
Source: GARD
Topic: Postural orthostatic tachycardia syndrome
Question: How to diagnose Postural orthostatic tachycardia syndrome ?
Answer: How is postural orthostatic tachycardia syndrome diagnosed? A diagnosis of postural orthostatic tachycardia syndrome (POTS) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. Many physicians will conduct a physical examination, including measuring blood pressure and heart rate while lying, sitting, and standing. A tilt table test may also be recommended to help confirm the diagnosis.
Source: GARD
Topic: Postural orthostatic tachycardia syndrome
Question: What are the treatments for Postural orthostatic tachycardia syndrome ?
Answer: How is postural orthostatic tachycardia syndrome treated? Because postural orthostatic tachycardia syndrome (POTS) is thought to have a variety of causes, there is no single treatment that is effective for all people with the condition. In general, management of POTS aims to relieve low blood volume and/or regulate circulatory problems that could be causing the condition. In some affected people, simple life style interventions such as adding extra salt to the diet, ensuring adequate fluid intake, participating in a specialized exercise program, and avoiding factors that exacerbate the condition appear to improve symptoms. Certain medications have also been used to treat POTS with some success.
Source: GARD
Topic: Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Question: What are the symptoms of Spondylometaphyseal dysplasia with dentinogenesis imperfecta ?
Answer: What are the signs and symptoms of Spondylometaphyseal dysplasia with dentinogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia with dentinogenesis imperfecta. 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) Brachydactyly syndrome 90% Joint hypermobility 90% Micromelia 90% Narrow chest 90% Platyspondyly 90% Short stature 90% Delayed eruption of teeth 50% Scoliosis 50% Depressed nasal bridge 7.5% Frontal bossing 7.5% Patent ductus arteriosus 7.5% Short nose 7.5% Strabismus 7.5% Autosomal dominant inheritance - Biconvex vertebral bodies - Cone-shaped epiphyses of the phalanges of the hand - Coronal cleft vertebrae - Delayed ossification of carpal bones - Dentinogenesis imperfecta - Flared iliac wings - Flat acetabular roof - Genu recurvatum - Genu varum - Irregular epiphyses - Long philtrum - Mesomelia - Metaphyseal cupping - Metaphyseal widening - Motor delay - Narrow face - Osteoporosis - Pectus carinatum - Prominent forehead - Respiratory distress - Short long bone - Short metacarpal - Short phalanx of finger - Small epiphyses - Spondylometaphyseal dysplasia - 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.
Source: GARD
Topic: Lymphocytic infiltrate of Jessner
Question: What is (are) Lymphocytic infiltrate of Jessner ?
Answer: Lymphocytic infiltrate of Jessner is a skin condition characterized by single or multiple small, nonscaly, red, bumps on the face, neck, and upper back. The bumps can enlarge to create a red plaque. Rarely, the skin lesions cause burning or itching. The condition tends to last for several months, sometimes longer. The lesions may fluctuate between periods of worsening and periods of improvement. Currently, the cause is not known.
Source: GARD
Topic: Lymphocytic infiltrate of Jessner
Question: What are the symptoms of Lymphocytic infiltrate of Jessner ?
Answer: What are the signs and symptoms of Lymphocytic infiltrate of Jessner? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphocytic infiltrate of Jessner. 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 lymphocytes 50% Cutaneous photosensitivity 50% Pruritus 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. 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.
Source: GARD
Topic: Lymphocytic infiltrate of Jessner
Question: What are the treatments for Lymphocytic infiltrate of Jessner ?
Answer: How might lymphocytic infiltrate of Jessner be treated? Lymphocytic infiltrate of Jessner may require no treatment (since it can resolve spontaneously), but some patients benefit from cosmetic camouflage, photoprotection, excision of small lesions, topical steroids, intralesional steroids, oral hydroxychloroquine, systemic steroids, cryotherapy, methotrexate, thalidomide, and/or oral auranofin. There has been one case report describing treatment with a pulsed-dye laser that worked effectively in this patient after a single treatment without adverse side effects. This and further information on treatment of lymphocytic infiltrate of Jessner is available at the following link to the eMedicine online reference Web site: http://emedicine.medscape.com/article/1098654-treatment
Source: GARD
Topic: Pontocerebellar hypoplasia type 1
Question: What is (are) Pontocerebellar hypoplasia type 1 ?
Answer: Pontocerebellar hypoplasia type 1 (PCH1) is a genetic condition that affects the development of the brain. Individuals with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. The pons, which is located at the base of the brain in an area called the brainstem, transmits signals from the cerebellum to the rest of the brain. Individuals with PCH1 also experience a degeneration of the anterior horn cells. Because of the anterior horn cell involvement, this condition bears a resemblance to infantile spinal muscular atrophy, with severe muscle weakness. Other signs and symptoms of PCH1 include very weak muscle tone (hypotonia), joint deformities called contractures, a small head size (microcephaly), and breathing problems that are present at birth. Mutations in the VRK1 gene have been identified in at least one family with PCH1. The condition is inherited in an autosomal recessive manner. Most children with PCH1 live only into infancy.
Source: GARD
Topic: Pontocerebellar hypoplasia type 1
Question: What are the symptoms of Pontocerebellar hypoplasia type 1 ?
Answer: What are the signs and symptoms of Pontocerebellar hypoplasia type 1? Pontocerebellar hypoplasia type 1 (PCH1) may first present in the prenatal period with reduced fetal movement. Polyhydramnios may also be noted. In most cases, the condition is obvious in the newborn period when respiratory insufficiency and muscle weakness present. Multiple contractures may also be present at birth, along with other motor impairment. Mental retardation and other signs of cerebellar disruption, including visual impairment, nystagmus and ataxia, may follow the initial presentation. The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 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) Aplasia/Hypoplasia of the cerebellum 90% Cerebral cortical atrophy 90% Hypertonia 90% Limitation of joint mobility 90% Microcephaly 90% Seizures 90% Deviation of finger 50% Abnormality of the foot - Ataxia - Autosomal recessive inheritance - Basal ganglia gliosis - Cerebellar hypoplasia - Congenital contracture - Congenital onset - Degeneration of anterior horn cells - EMG: neuropathic changes - Fasciculations - Feeding difficulties in infancy - Hyperreflexia - Hypoplasia of the pons - Hypoplasia of the ventral pons - Intellectual disability - Muscle weakness - Muscular hypotonia - Neuronal loss in basal ganglia - Progressive - Respiratory insufficiency - Spinal muscular atrophy - 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.
Source: GARD
Topic: Pontocerebellar hypoplasia type 1
Question: What causes Pontocerebellar hypoplasia type 1 ?
Answer: What causes pontocerebellar hypoplasia type 1? A specific mutations in the VRK1 gene has caused PCH1 in at least one family. Specific mutations in RARS2 and TSEN54 have also been associated with PCH1. TSEN54 mutations were identified in one case from a family with three siblings with PCH1; DNA was only available in one of the three siblings. Mutations in RARS2 were also identified in one case with PCH1. In general, there is no known genetic cause for the majority of PCH1 cases and no other genes have been linked to PCH1 yet, with the exception of rare cases associated with TSEN54, RARS2 and VRK1 mutations. In fact, only fifteen families with PCH1 have been published thus far; of these, mutations were only identified in 3 families. Further research on these and other candidate genes in PCH1 is necessary to identify mutations involved in the remaining majority of the PCH1 cases.Specific mutations in other genes have been shown to cause the various other forms of pontocerebellar hypoplasia and include the RARS2, TSEN2, TSEN34, and TSEN54 genes. Mutations in three related genes, TSEN2, TSEN34, and TSEN54, can result in PCH2. TSEN54 gene mutations can also cause PCH4 and PCH5.[2951] Mutations in the RARS2 gene can cause PCH6. The genetic cause of PCH3 is unknown.
Source: GARD
Topic: Pontocerebellar hypoplasia type 1
Question: Is Pontocerebellar hypoplasia type 1 inherited ?
Answer: How is pontocerebellar hypoplasia type 1 inherited? Pontocerebellar hypoplasia type 1 (PCH1) is inherited in an autosomal recessive pattern, which means both copies of the associated 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. This means that parents who are carriers of this condition have a 25% chance of having an affected child.
Source: GARD
Topic: Pontocerebellar hypoplasia type 1
Question: What are the treatments for Pontocerebellar hypoplasia type 1 ?
Answer: How might pontocerebellar hypoplasia type 1 be treated? There is no standard therapy for pontocerebellar hypoplasia type 1. Treatment is symptomatic and supportive.
Source: GARD
Topic: Limbic encephalitis
Question: What is (are) Limbic encephalitis ?
Answer: Limbic encephalitis is a condition marked by the inflammation of the limbic system and other parts of the brain. The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however, symptoms may also include confusion, psychiatric symptoms, and seizures. The symptoms typically develop over a few weeks or months, but they may evolve over a few days. Delayed diagnosis is common, but improvements are being made to assist in early detection. Early diagnosis may improve the outcome of limbic encephalitis.
Source: GARD