Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: How many people are affected by Lennox-Gastaut syndrome ?
Answer: Lennox-Gastaut syndrome affects an estimated 1 in 50,000 to 1 in 100,000 children. This condition accounts for about 4 percent of all cases of childhood epilepsy. For unknown reasons, it appears to be more common in males than in females.
Question: What are the genetic changes related to Lennox-Gastaut syndrome ?
Answer: Researchers have not identified any genes specific to Lennox-Gastaut syndrome, although the disorder likely has a genetic component. About two-thirds of cases are described as symptomatic, which means that they are related to an existing neurological problem. Symptomatic Lennox-Gastaut syndrome can be associated with brain injuries that occur before or during birth, problems with blood flow in the developing brain, brain infections, or other disorders affecting the nervous system. The condition can also result from a brain malformation known as cortical dysplasia or occur as part of a genetic disorder called tuberous sclerosis complex. Many people with Lennox-Gastaut syndrome have a history of recurrent seizures beginning in infancy (infantile spasms) or a related condition called West syndrome. In about one-third of cases, the cause of Lennox-Gastaut syndrome is unknown. When the disorder occurs without an apparent underlying reason, it is described as cryptogenic. Individuals with cryptogenic Lennox-Gastaut syndrome have no history of epilepsy, neurological problems, or delayed development prior to the onset of the disorder.
Question: Is Lennox-Gastaut syndrome inherited ?
Answer: Most cases of Lennox-Gastaut syndrome are sporadic, which means they occur in people with no history of the disorder in their family. However, 3 to 30 percent of people with this condition have a family history of some type of epilepsy. People with the cryptogenic form of Lennox-Gastaut syndrome are more likely than people with the symptomatic form to have a family history of epilepsy.
Question: What are the treatments for Lennox-Gastaut syndrome ?
Answer: These resources address the diagnosis or management of Lennox-Gastaut syndrome: - Cleveland Clinic - Genetic Testing Registry: Epileptic encephalopathy Lennox-Gastaut type - National Institute of Neurological Disorders and Stroke: Diagnosis and Treatment of Epilepsy - News Release: FDA Approves New Drug to Treat Severe Form of Epilepsy (U.S. Food and Drug Administration, November 20, 2008) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Question: What is (are) Christianson syndrome ?
Answer: Christianson syndrome is a disorder that primarily affects the nervous system. This condition becomes apparent in infancy. Its characteristic features include delayed development, intellectual disability, an inability to speak, problems with balance and coordination (ataxia), and difficulty standing or walking. Individuals who do learn to walk lose the ability in childhood. Most affected children also have recurrent seizures (epilepsy), beginning between ages 1 and 2. Other features seen in many people with Christianson syndrome include a small head size (microcephaly); a long, narrow face with prominent nose, jaw, and ears; an open mouth and uncontrolled drooling; and abnormal eye movements. Affected children often have a happy demeanor with frequent smiling and spontaneous laughter.
Question: How many people are affected by Christianson syndrome ?
Answer: Christianson syndrome is a rare condition, although the exact prevalence is unknown. The condition was first described in a South African family and has since been found people in other parts of the world.
Question: What are the genetic changes related to Christianson syndrome ?
Answer: Christianson syndrome is caused by mutations in the SLC9A6 gene, which provides instructions for making a protein called sodium/hydrogen exchanger 6 (Na+/H+ exchanger 6 or NHE6). The NHE6 protein is found in the membrane surrounding endosomes, which are compartments within cells that recycle proteins and other materials. The NHE6 protein acts as a channel to exchange positively charged atoms (ions) of sodium (Na+) with hydrogen ions (H+). By controlling the amount of hydrogen ions, the NHE6 protein helps regulate the relative acidity (pH) inside endosomes, which is important for the recycling function of these compartments. The NHE6 protein may have additional functions, such as helping to move proteins to the correct location in the cell (protein trafficking). Mutations in the SLC9A6 gene typically lead to an abnormally short NHE6 protein that is nonfunctional or that is broken down quickly in cells, resulting in the absence of functional NHE6 channels. As a result, the pH in endosomes is not properly maintained. It is unclear how unregulated endosomal pH leads to neurological problems in people with Christianson syndrome. Some studies have shown that protein trafficking by endosomes is important for learning and memory, but the role of endosomal pH or the NHE6 protein in this process has not been identified.
Question: Is Christianson syndrome inherited ?
Answer: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene but usually does not experience signs and symptoms of the disorder. Occasionally, however, females who carry an SLC9A6 gene mutation have mild learning disabilities. It is unclear if these disabilities are related to the gene mutation or occur by chance.
Question: What are the treatments for Christianson syndrome ?
Answer: These resources address the diagnosis or management of Christianson syndrome: - Genetic Testing Registry: Christianson syndrome - MedlinePlus Encyclopedia: Seizures These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Question: What is (are) Meier-Gorlin syndrome ?
Answer: Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect. Some people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age). Most people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge. Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair. Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.
Question: How many people are affected by Meier-Gorlin syndrome ?
Answer: Meier-Gorlin syndrome is a rare condition; however, its prevalence is unknown.
Question: What are the genetic changes related to Meier-Gorlin syndrome ?
Answer: Meier-Gorlin syndrome can be caused by mutations in one of several genes. Each of these genes, ORC1, ORC4, ORC6, CDT1, and CDC6, provides instructions for making one of a group of proteins known as the pre-replication complex. This complex regulates initiation of the copying (replication) of DNA before cells divide. Specifically, the pre-replication complex attaches (binds) to certain regions of DNA known as origins of replication, allowing copying of the DNA to begin at that location. This tightly controlled process, called replication licensing, helps ensure that DNA replication occurs only once per cell division and is required for cells to divide. Mutations in any one of these genes impair formation of the pre-replication complex and disrupt replication licensing; however, it is not clear how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the cell division process, which impairs growth of the bones and other tissues during development. Some research suggests that some of the pre-replication complex proteins have additional functions, impairment of which may contribute to features of Meier-Gorlin syndrome, such as delayed development of the kneecaps and ears.
Question: Is Meier-Gorlin syndrome inherited ?
Answer: 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.
Question: What are the treatments for Meier-Gorlin syndrome ?
Answer: These resources address the diagnosis or management of Meier-Gorlin syndrome: - Genetic Testing Registry: Meier-Gorlin syndrome - Genetic Testing Registry: Meier-Gorlin syndrome 2 - Genetic Testing Registry: Meier-Gorlin syndrome 3 - Genetic Testing Registry: Meier-Gorlin syndrome 4 - Genetic Testing Registry: Meier-Gorlin syndrome 5 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Question: What is (are) myoclonus-dystonia ?
Answer: Myoclonus-dystonia is a movement disorder that typically affects the upper half of the body. Individuals with this condition experience quick, involuntary muscle jerking or twitching (myoclonus) that usually affects their arms, neck, and trunk. Less frequently, the legs are involved as well. More than half of affected individuals also develop dystonia, which is a pattern of involuntary muscle contractions that causes twisting and pulling movements of specific body parts. The dystonia associated with myoclonus-dystonia may affect a single part of the body, causing isolated problems such as a writer's cramp in the hand, or it may involve multiple areas of the body. Rarely, people with this condition have dystonia as their only symptom. The movement problems usually appear in childhood or early adolescence, and myoclonus is typically the initial symptom. Myoclonus may be triggered by movement or stimulation of the affected body area, stress, sudden noise, or caffeine. In some cases, the myoclonus gets worse over time; in other cases, people experience a spontaneous improvement (remission) of their symptoms. It is unclear why the movement abnormalities improve in some people but not in others. People with myoclonus-dystonia may have an increased risk for developing psychological conditions such as depression, anxiety, panic attacks, and obsessive-compulsive disorder (OCD).
Question: How many people are affected by myoclonus-dystonia ?
Answer: The prevalence of myoclonus-dystonia is unknown. This condition has been described in people worldwide.
Question: What are the genetic changes related to myoclonus-dystonia ?
Answer: Mutations in the SGCE gene cause myoclonus-dystonia. The SGCE gene provides instructions for making a protein called epsilon ()-sarcoglycan, whose function is unknown. The -sarcoglycan protein is located within the cell membranes of many tissues, but it is most abundant in nerve cells (neurons) in the brain and in muscle cells. SGCE gene mutations that cause myoclonus-dystonia result in a shortage of -sarcoglycan protein. The protein shortage seems to affect the regions of the brain involved in coordinating movements (the cerebellum) and controlling movements (the basal ganglia). Thus, the movement problems experienced by people with myoclonus-dystonia are caused by dysfunction in the brain, not the muscles. People with this condition show no signs of muscle disease. It is unknown why SGCE gene mutations seem only to affect the brain.
Question: Is myoclonus-dystonia inherited ?
Answer: Myoclonus-dystonia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People normally inherit one copy of each gene from their mother and one copy from their father. For most genes, both copies are active, or "turned on," in all cells. For a small subset of genes, however, only one of the two copies is active. For some of these genes, only the copy inherited from a person's father (the paternal copy) is active, while for other genes, only the copy inherited from a person's mother (the maternal copy) is active. These differences in gene activation based on the gene's parent of origin are caused by a phenomenon called genomic imprinting. Only the paternal copy of the SGCE gene is active. Myoclonus-dystonia occurs when mutations affect the paternal copy of the SGCE gene. Mutations in the maternal copy of the gene typically do not cause any health problems.
Question: What are the treatments for myoclonus-dystonia ?
Answer: These resources address the diagnosis or management of myoclonus-dystonia: - Gene Review: Gene Review: Myoclonus-Dystonia - Genetic Testing Registry: Myoclonic dystonia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Question: What is (are) 15q13.3 microdeletion ?
Answer: 15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders. However, some people with a 15q13.3 microdeletion do not appear to have any associated features. About half of all people with a 15q13.3 microdeletion have learning difficulties or intellectual disability, which is usually mild or moderate. Many of these individuals have delayed speech and language skills. 15q13.3 microdeletion also appears to be a major risk factor for recurrent seizures (epilepsy); about one-third of people with this chromosomal change have epilepsy. 15q13.3 microdeletion has also been associated with behavioral problems, including a short attention span, aggression, impulsive behavior, and hyperactivity. Some people with a 15q13.3 microdeletion have been diagnosed with developmental disorders that affect communication and social interaction (autism spectrum disorders). This chromosomal change may also be associated with an increased risk of psychiatric disorders, particularly schizophrenia. Other signs and symptoms of 15q13.3 microdeletion can include heart defects, minor abnormalities involving the hands and arms, and subtle differences in facial features. Some people with a 15q13.3 microdeletion do not have any of the intellectual, behavioral, or physical features described above. In these individuals, the microdeletion is often detected when they undergo genetic testing because they have an affected relative. It is unknown why a 15q13.3 microdeletion causes cognitive and behavioral problems in some individuals but few or no health problems in others.
Question: How many people are affected by 15q13.3 microdeletion ?
Answer: 15q13.3 microdeletion likely occurs in about 1 in 40,000 people in the general population. It appears to be more common in people with intellectual disability, epilepsy, schizophrenia, or autism spectrum disorders.
Question: What are the genetic changes related to 15q13.3 microdeletion ?
Answer: Most people with a 15q13.3 microdeletion are missing a sequence of about 2 million DNA building blocks (base pairs), also written as 2 megabases (Mb), at position q13.3 on chromosome 15. The exact size of the deleted region varies, but it typically contains at least six genes. This deletion usually affects one of the two copies of chromosome 15 in each cell. The signs and symptoms that can result from a 15q13.3 microdeletion are probably related to the loss of one or more genes in this region. However, it is unclear which missing genes contribute to the specific features of the disorder. Because some people with a 15q13.3 microdeletion have no obvious signs or symptoms, researchers believe that other genetic or environmental factors may also be involved.
Question: Is 15q13.3 microdeletion inherited ?
Answer: 15q13.3 microdeletion is inherited in an autosomal dominant pattern, which means one copy of the deleted region on chromosome 15 in each cell is sufficient to increase the risk of intellectual disability and other characteristic features. In about 75 percent of cases, individuals with 15q13.3 microdeletion inherit the chromosomal change from a parent. In the remaining cases, 15q13.3 microdeletion occurs in people whose parents do not carry the chromosomal change. In these individuals, the deletion occurs most often as a random event during the formation of reproductive cells (eggs and sperm) or in early fetal development.
Question: What are the treatments for 15q13.3 microdeletion ?
Answer: These resources address the diagnosis or management of 15q13.3 microdeletion: - Gene Review: Gene Review: 15q13.3 Microdeletion - Genetic Testing Registry: 15q13.3 microdeletion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Question: What is (are) androgenetic alopecia ?
Answer: Androgenetic alopecia is a common form of hair loss in both men and women. In men, this condition is also known as male-pattern baldness. Hair is lost in a well-defined pattern, beginning above both temples. Over time, the hairline recedes to form a characteristic "M" shape. Hair also thins at the crown (near the top of the head), often progressing to partial or complete baldness. The pattern of hair loss in women differs from male-pattern baldness. In women, the hair becomes thinner all over the head, and the hairline does not recede. Androgenetic alopecia in women rarely leads to total baldness. Androgenetic alopecia in men has been associated with several other medical conditions including coronary heart disease and enlargement of the prostate. Additionally, prostate cancer, disorders of insulin resistance (such as diabetes and obesity), and high blood pressure (hypertension) have been related to androgenetic alopecia. In women, this form of hair loss is associated with an increased risk of polycystic ovary syndrome (PCOS). PCOS is characterized by a hormonal imbalance that can lead to irregular menstruation, acne, excess hair elsewhere on the body (hirsutism), and weight gain.
Question: How many people are affected by androgenetic alopecia ?
Answer: Androgenetic alopecia is a frequent cause of hair loss in both men and women. This form of hair loss affects an estimated 50 million men and 30 million women in the United States. Androgenetic alopecia can start as early as a person's teens and risk increases with age; more than 50 percent of men over age 50 have some degree of hair loss. In women, hair loss is most likely after menopause.
Question: What are the genetic changes related to androgenetic alopecia ?
Answer: A variety of genetic and environmental factors likely play a role in causing androgenetic alopecia. Although researchers are studying risk factors that may contribute to this condition, most of these factors remain unknown. Researchers have determined that this form of hair loss is related to hormones called androgens, particularly an androgen called dihydrotestosterone. Androgens are important for normal male sexual development before birth and during puberty. Androgens also have other important functions in both males and females, such as regulating hair growth and sex drive. Hair growth begins under the skin in structures called follicles. Each strand of hair normally grows for 2 to 6 years, goes into a resting phase for several months, and then falls out. The cycle starts over when the follicle begins growing a new hair. Increased levels of androgens in hair follicles can lead to a shorter cycle of hair growth and the growth of shorter and thinner strands of hair. Additionally, there is a delay in the growth of new hair to replace strands that are shed. Although researchers suspect that several genes play a role in androgenetic alopecia, variations in only one gene, AR, have been confirmed in scientific studies. The AR gene provides instructions for making a protein called an androgen receptor. Androgen receptors allow the body to respond appropriately to dihydrotestosterone and other androgens. Studies suggest that variations in the AR gene lead to increased activity of androgen receptors in hair follicles. It remains unclear, however, how these genetic changes increase the risk of hair loss in men and women with androgenetic alopecia. Researchers continue to investigate the connection between androgenetic alopecia and other medical conditions, such as coronary heart disease and prostate cancer in men and polycystic ovary syndrome in women. They believe that some of these disorders may be associated with elevated androgen levels, which may help explain why they tend to occur with androgen-related hair loss. Other hormonal, environmental, and genetic factors that have not been identified also may be involved.
Question: Is androgenetic alopecia inherited ?
Answer: The inheritance pattern of androgenetic alopecia is unclear because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having a close relative with patterned hair loss appears to be a risk factor for developing the condition.
Question: What are the treatments for androgenetic alopecia ?
Answer: These resources address the diagnosis or management of androgenetic alopecia: - Genetic Testing Registry: Baldness, male pattern - MedlinePlus Encyclopedia: Female Pattern Baldness - MedlinePlus Encyclopedia: Hair Loss - MedlinePlus Encyclopedia: Male Pattern Baldness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care