sarnsrun/medquad huggingface dataset:
Topic: Tourette syndrome
Question: What is (are) Tourette syndrome ?
Answer: Tourette syndrome is a complex neurological disorder that is characterized by repetitive, sudden, uncontrolled (involuntary) movements and sounds (vocalizations) called tics. Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. A variety of genetic and environmental factors likely play a role in causing Tourette syndrome. A small number of people with Tourette syndrome have been found to have mutations involving the SLITRK1 gene. The syndrome is believed to be linked to problems in certain areas of the brain, and the chemical substances (dopamine, serotonin, and norepinephrine) that help nerve cells talk to one another. It is estimated that about 1% of the population has Tourette syndrome. Many people with very mild tics may not be aware of them and never seek medical help. Tourette syndrome is four times as likely to occur in boys as in girls. Although Tourette syndrome can be a chronic condition with symptoms lasting a lifetime, most people with the condition experience their worst symptoms in their early teens, with improvement occurring in the late teens and continuing into adulthood.
Source: GARD
Topic: Tourette syndrome
Question: What are the symptoms of Tourette syndrome ?
Answer: What are the signs and symptoms of Tourette syndrome? The early symptoms of Tourette syndrome are almost always noticed first in childhood, with the average onset between the ages of 3 and 9 years. Although the symptoms of Tourette syndrome vary from person to person and range from very mild to severe, the majority of cases fall into the mild category. The Human Phenotype Ontology provides the following list of signs and symptoms for Tourette 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) Aggressive behavior - Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Echolalia - Motor tics - Obsessive-compulsive behavior - Phonic tics - Self-mutilation - Sleep disturbance - 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: Tourette syndrome
Question: What causes Tourette syndrome ?
Answer: What causes Tourette syndrome? Although the cause of Tourette syndrome is unknown, current research points to abnormalities in certain brain regions (including the basal ganglia, frontal lobes, and cortex), the circuits that interconnect these regions, and the neurotransmitters (dopamine, serotonin, and norepinephrine) responsible for communication among nerve cells. Given the often complex presentation of Tourette syndrome, the cause of the disorder is likely to be equally complex. In many cases, there is a family history of tics, Tourette Syndrome, ADHD, OCD. In 2005, scientists discovered the first gene mutation that may cause some cases of Tourette syndrome. This gene, named SLITRK1, is normally involved with the growth of nerve cells and how they connect with other neurons.  The mutated gene is located in regions of the brain (basal ganglia, cortex, and frontal lobes) previously identified as being associated with Tourette syndrome.
Source: GARD
Topic: Tourette syndrome
Question: Is Tourette syndrome inherited ?
Answer: Is Tourette syndrome inherited? Evidence from twin and family studies suggests that Tourette syndrome is an inherited disorder. Although early family studies suggested an autosomal dominant mode of inheritance (an autosomal dominant disorder is one in which only one copy of the defective gene, inherited from one parent, is necessary to produce the disorder), more recent studies suggest that the pattern of inheritance is much more complex. Although there may be a few genes with substantial effects, it is also possible that many genes with smaller effects and environmental factors may play a role in the development of Tourette syndrome. Genetic studies also suggest that some forms of ADHD and OCD are genetically related to Tourette syndrome, but there is less evidence for a genetic relationship between Tourette syndrome and other neurobehavioral problems that commonly co-occur with Tourette syndrome. Due to the complex nature of Tourette syndrome inheritance, affected families and those at risk may benefit from consulting with a genetics professional. Information about how to locate a genetics professional is provided in the Living With section.
Source: GARD
Topic: Tourette syndrome
Question: What are the treatments for Tourette syndrome ?
Answer: How might Tourette syndrome be treated? Many individuals with Tourette syndrome have mild symptoms and do not require medication. However, effective medications are available for those whose symptoms interfere with functioning. Neuroleptics are the most consistently useful medications for tic suppression; a number are available but some are more effective than others (for example, haloperidol and pimozide). Unfortunately, there is no one medication that is helpful to all people with Tourette syndrome, nor does any medication completely eliminate symptoms. In addition, all medications have side effects. Additional medications with demonstrated efficacy include alpha-adrenergic agonists such as clonidine and guanfacine. These medications are used primarily for hypertension but are also used in the treatment of tics. Effective medications are also available to treat some of the associated neurobehavioral disorders that can occur in patients with Tourette syndrome. Recent research shows that stimulant medications such as methylphenidate and dextroamphetamine can lessen ADHD symptoms in people with Tourette syndrome without causing tics to become more severe.  However, the product labeling for stimulants currently contraindicates the use of these drugs in children with tics/Tourette syndrome and those with a family history of tics.  For obsessive-compulsive symptoms that significantly disrupt daily functioning, the serotonin reuptake inhibitors (clomipramine, fluoxetine, fluvoxamine, paroxetine, and sertraline) have been proven effective in some individuals. Behavioral treatment such as awareness training and competing response training can also be used to reduce tics. Psychotherapy may be helpful as well. It can help with accompanying problems, such as ADHD, obsessions, depression and anxiety. Therapy can also help people cope with Tourette syndrome. For debilitating tics that don't respond to other treatment, deep brain stimulation (DBS) may help. DBS consists of implanting a battery-operated medical device (neurostimulator) in the brain to deliver electrical stimulation to targeted areas that control movement. Further research is needed to determine whether DBS is beneficial for people with Tourette syndrome.
Source: GARD
Topic: Maternally inherited diabetes and deafness
Question: What is (are) Maternally inherited diabetes and deafness ?
Answer: Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. MIDD is caused by mutations in the MT-TL1, MT-TK, or MT-TE gene. These genes are found in mitochondrial DNA, which is part of cellular structures called mitochondria. Although most DNA is packaged in chromosomes within the cell nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). Because the genes involved with MIDD are found in mitochondrial DNA, this condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial conditions to their children. Mitochondrial disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass mitochondrial traits to their children.
Source: GARD
Topic: Maternally inherited diabetes and deafness
Question: What are the symptoms of Maternally inherited diabetes and deafness ?
Answer: What are the signs and symptoms of Maternally inherited diabetes and deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Maternally inherited diabetes and deafness. 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 the macula 90% Chorioretinal abnormality 90% Constipation 90% Diabetes mellitus 90% Malabsorption 90% Sensorineural hearing impairment 90% Abnormality of lipid metabolism 50% Aplasia/Hypoplasia of the cerebellum 50% Arrhythmia 50% Congestive heart failure 50% Glomerulopathy 50% Hypertension 50% Hypertrophic cardiomyopathy 50% Muscle weakness 50% Myalgia 50% Ophthalmoparesis 50% Proteinuria 50% Cataract 7.5% Incoordination 7.5% Renal insufficiency 7.5% Retinopathy 7.5% Visual impairment 7.5% Ptosis 5% Dysarthria - External ophthalmoplegia - Hyperglycemia - Mitochondrial inheritance - Pigmentary retinal degeneration - Retinal degeneration - Seizures - Type II diabetes mellitus - Unsteady gait - Vertigo - 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. When do the diabetes and hearing loss associated with MIDD typically develop? In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes.
Source: GARD
Topic: Maternally inherited diabetes and deafness
Question: Is Maternally inherited diabetes and deafness inherited ?
Answer: How do people inherit MIDD? MIDD is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mitochondrial DNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial conditions to their children. Mitochondrial disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass mitochondrial traits to their children. Most of the body's cells contain thousands of mitochondria, each with one or more copies of mitochondrial DNA. These cells can have a mix of mitochondria containing mutated and unmutated DNA (heteroplasmy). The severity of MIDD is thought to be associated with the percentage of mitochondria with the mitochondrial DNA mutation.
Source: GARD
Topic: Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
Question: What is (are) Intestinal pseudoobstruction neuronal chronic idiopathic X-linked ?
Answer: Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.
Source: GARD
Topic: Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
Question: What are the symptoms of Intestinal pseudoobstruction neuronal chronic idiopathic X-linked ?
Answer: What are the signs and symptoms of Intestinal pseudoobstruction neuronal chronic idiopathic X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Intestinal pseudoobstruction neuronal chronic idiopathic X-linked. 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) Hydronephrosis 5% Pyloric stenosis 5% Seizures 5% Spastic diplegia 5% Abdominal distention - Abnormal facial shape - Feeding difficulties in infancy - Hypertelorism - Increased mean platelet volume - Infantile onset - Intestinal malrotation - Intestinal pseudo-obstruction - Low-set ears - Patent ductus arteriosus - Smooth philtrum - Thrombocytopenia - Vomiting - X-linked recessive inheritance - 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: Optic neuritis
Question: What is (are) Optic neuritis ?
Answer: Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain. The condition may cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated.
Source: GARD
Topic: Optic neuritis
Question: How to diagnose Optic neuritis ?
Answer: How is optic neuritis diagnosed? The diagnosis of optic neuritis is usually based on clinical findings and ophthalmologic examination. A careful history, including information about recent illness, fever, or immunizations is helpful. An eye exam should be conducted with assessment of visual acuity, pupil reactions, color vision and peripheral vision. The optic nerve should be examined with ophthalmoscopy for inflammation and swelling. Additional tests may include MRI of the brain, spinal tap and blood tests.
Source: GARD
Topic: Mitral valve prolapse, familial, X-linked
Question: What are the symptoms of Mitral valve prolapse, familial, X-linked ?
Answer: What are the signs and symptoms of Mitral valve prolapse, familial, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitral valve prolapse, familial, X-linked. 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 - Disproportionate tall stature - High palate - Mitral regurgitation - Mitral valve prolapse - Pectus excavatum - Reversed usual vertebral column curves - Striae distensae - 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: Protein C deficiency
Question: What is (are) Protein C deficiency ?
Answer: Protein C deficiency is a disorder that increases a person's risk to develop abnormal blood clots. The condition can be mild or severe. People with mild protein C deficiency are at risk for a type of clot called deep vein thrombosis (DVT). A DVT can travel through the bloodstream and become stuck in the lung, which can cause a life-threatening pulmonary embolism. Most people with mild protein C deficiency never develop abnormal blood clots, but certain factors can increase the risk to develop a blood clot. In severe protein C deficiency, affected infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. This is characterized by blood clots that block normal blood flow and can lead to death of body tissues (necrosis). Abnormal bleeding can occur in various parts of the body causing purple patches on the skin. Protein C deficiency may be inherited or acquired. The inherited form is caused by mutations in the PROC gene and is inherited in an autosomal dominant manner. Most people with protein C deficiency do not have any symptoms and require no specific treatment. However, in situations of clot risk such as pregnancy, surgery or trauma, prevention treatment may be indicated. Patients with the severe form of the disease are treated depending on the symptoms. A protein C concentrate is effective in many cases. Liver transplant may cure the babies with this disease.
Source: GARD
Topic: Protein C deficiency
Question: What are the symptoms of Protein C deficiency ?
Answer: What are the signs and symptoms of Protein C deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Protein C 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) Subcutaneous hemorrhage 50% Thin skin 50% Thrombophlebitis 50% Abnormality of skin pigmentation 7.5% Abnormality of the cerebral vasculature 7.5% Gangrene 7.5% Pulmonary embolism 7.5% Skin ulcer 7.5% Venous insufficiency 7.5% Abnormality of the eye - Abnormality of the nervous system - Autosomal dominant inheritance - Cerebral venous thrombosis - Deep venous thrombosis - Hypercoagulability - Reduced protein C activity - Superficial thrombophlebitis - Warfarin-induced skin necrosis - 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: Protein C deficiency
Question: What causes Protein C deficiency ?
Answer: What causes protein C deficiency? Protein C deficiency can be inherited or acquired later in life. Inherited protein C deficiency is caused by mutations in the gene that provides instructions for making protein C, called the PROC gene. These mutations disrupt the protein's ability to control blood clotting. If protein C cannot control blood clotting, abnormal blood clots may form. Acquired protein C deficiency may be caused by large blood clots, liver disease, disseminated intravascular coagulation (DIC), infection (sepsis), and vitamin K deficiency. Treatment with warfarin or certain types of chemotherapy can also cause acquired protein C deficiency.
Source: GARD
Topic: Protein C deficiency
Question: Is Protein C deficiency inherited ?
Answer: How is protein C deficiency inherited? Hereditary protein C deficiency is inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene in each cell is enough to cause mild protein C deficiency. A mutated copy of the gene can be inherited from a person's mother or father. People who inherit two mutated copies of the gene have severe protein C deficiency.
Source: GARD