falan42/medcuad_data huggingface dataset:
Topic: Charcot-Marie-Tooth disease type 2K
Question: What are the symptoms of Charcot-Marie-Tooth disease type 2K ?
Answer: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2K? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2K. 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) Areflexia - Autosomal dominant inheritance - Autosomal recessive inheritance - Axonal regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Infantile onset - Kyphoscoliosis - Proximal muscle weakness - Split hand - Talipes equinovarus - 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: CLOVES syndrome
Question: What are the symptoms of CLOVES syndrome ?
Answer: What are the signs and symptoms of CLOVES syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CLOVES 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) Hemihypertrophy 100% Lipoma 75% Lower limb asymmetry 5% Renal hypoplasia/aplasia 5% Scoliosis 5% Spinal dysraphism 5% Tethered cord 5% Abnormality of cardiovascular system morphology - Cranial hyperostosis - Facial asymmetry - Overgrowth - Sandal gap - Splenomegaly - 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: Progressive deafness with stapes fixation
Question: What is (are) Progressive deafness with stapes fixation ?
Answer: Progressive deafness with stapes fixation, also known as Thies Reis syndrome, is a form of conductive or mixed hearing loss caused by fixation of the stapes. The stapes is one of the tiny bones in the middle ear. It rests in the entrance to the inner ear, allowing sounds to pass to the inner ear. If it becomes fixated, sound waves cannot pass through to the inner ear, resulting in loss of hearing. This condition may be associated with a number of conditions, including ostosclerosis, Paget's disease and osteogenesis imperfecta, or it may be found in isolation. It may also result from chronic ear infections (otitis media with tympanosclerosis). The progression of hearing loss is generally slow, rarely profound, and usually resolves following treatment. Conductive hearing loss can be restored through surgery or hearing aids. Sensorineural hearing loss can be managed with hearing aids or cochlear implants.
(Source: GARD)
Topic: Progressive deafness with stapes fixation
Question: What are the symptoms of Progressive deafness with stapes fixation ?
Answer: What are the signs and symptoms of Progressive deafness with stapes fixation? Deafness, progressive with stapes fixation is characterized by bilateral hearing loss - either conductive or mixed - and stapes fixation. Hearing loss typically begins between ages 8 and 24. The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive deafness with stapes fixation. 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 recessive inheritance - Bilateral conductive hearing impairment - Stapes ankylosis - 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: Progressive deafness with stapes fixation
Question: What causes Progressive deafness with stapes fixation ?
Answer: What causes deafness, progressive with stapes fixation? The exact cause of deafness, progressive with stapes fixation depends on whether it is associated with an underlying condition or infection. Isolated cases may be inherited.  Autosomal dominant, autosomal recessive, and X-linked cases have been reported. In some cases, no underlying cause can be identified.
(Source: GARD)
Topic: Progressive deafness with stapes fixation
Question: What are the treatments for Progressive deafness with stapes fixation ?
Answer: How might deafness, progressive with stapes fixation be treated? Treatment for deafness, progressive with stapes fixation typically involves surgery. The conductive component of the hearing loss can be restored by surgery or hearing aids. The associated sensorineural component is managed by hearing aids or cochlear implants, depending on its severity. Stapedotomy (a procedure where a laser is used to make a hole in the stapes) or partial stapedectomy (removal of the stapes) with stapes replacement using a prostheses most commonly achieves satisfactory results with minimal complications.
(Source: GARD)
Topic: Myelomeningocele
Question: What is (are) Myelomeningocele ?
Answer: Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and they may have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect.
(Source: GARD)
Topic: Myelomeningocele
Question: What are the symptoms of Myelomeningocele ?
Answer: What are the signs and symptoms of myelomeningocele? A baby born with a myelomeningocele may have a sac sticking out of the mid to lower back that the doctor cannot see through when shining a light behind it. Symptoms of this condition include:[5182] Loss of bladder or bowel control Partial or complete lack of sensation Partial or complete paralysis of the legs Weakness of the hips, legs, or feet Some individuals may have additional symptoms. Other symptoms include: Abnormal feet or legs, such as clubfoot. Build up of fluid inside the skull (hydrocephalus) Hair at the back part of the pelvis called the sacral area Dimpling of the sacral area Meningitis Chiari II malformation Twenty to 50 percent of children with myelomeningocele develop a condition called progressive tethering, or tethered cord syndrome. A part of the spinal cord becomes fastened to an immovable structuresuch as overlying membranes and vertebraecausing the spinal cord to become abnormally stretched and the vertebrae elongated with growth and movement. This condition can cause change in the muscle function of the legs, as well as changes in bowel and bladder function. Early surgery on the spinal cord may help the child to regain a normal level of functioning and prevent further neurological deterioration.
(Source: GARD)
Topic: Myelomeningocele
Question: What are the treatments for Myelomeningocele ?
Answer: How might myelomeningocele be treated? A child with meningomyelocele usually has surgery to close the myelomenigocele shortly after birth. This prevents infections and helps save the spinal cord from more damage.[5181] Children who also have hydrocephalus may need a ventricular peritoneal shunt placed. This will help drain the extra fluid.[5182] In the United States, antibiotics, sac closure, and ventriculoperitoneal shunt placement are the standard of care and are implemented soon after birth in 93-95% of patients.
(Source: GARD)
Topic: Autoimmune myocarditis
Question: What is (are) Autoimmune myocarditis ?
Answer: Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended.
(Source: GARD)
Topic: Curry Jones syndrome
Question: What are the symptoms of Curry Jones syndrome ?
Answer: What are the signs and symptoms of Curry Jones syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Curry Jones 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) Finger syndactyly 90% Hypertelorism 90% Hypopigmented skin patches 90% Abnormality of thumb phalanx 50% Aplasia/Hypoplasia affecting the eye 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the skin 50% Cognitive impairment 50% Craniosynostosis 50% Facial asymmetry 50% Foot polydactyly 50% Hypertrichosis 50% Preaxial hand polydactyly 50% Toe syndactyly 50% Ventriculomegaly 50% Chorioretinal coloboma 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Optic nerve coloboma 7.5% Abnormality of the skin - Agenesis of corpus callosum - Anal stenosis - Blepharophimosis - Coloboma - Microphthalmia - Syndactyly - 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: Spinal intradural arachnoid cysts
Question: What are the symptoms of Spinal intradural arachnoid cysts ?
Answer: What are the signs and symptoms of Spinal intradural arachnoid cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal intradural arachnoid cysts. 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 vertebral column - Arachnoid cyst - Autosomal dominant inheritance - Paraplegia - 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: Lattice corneal dystrophy type 1
Question: What is (are) Lattice corneal dystrophy type 1 ?
Answer: Lattice corneal dystrophy is a type of stromal dystrophy. It is characterized by the build up of protein fibers (i.e., amyloid) in the stroma.  Symptoms may include corneal erosions, decreased vision, photosensitivity, and eye pain. Most cases of lattice dystrophy are caused by mutations in the TGFBI gene.
(Source: GARD)
Topic: Lattice corneal dystrophy type 1
Question: What are the symptoms of Lattice corneal dystrophy type 1 ?
Answer: What are the signs and symptoms of Lattice corneal dystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy 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) Autosomal dominant inheritance - Lattice corneal dystrophy - Progressive visual loss - Recurrent corneal erosions - 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: Complex regional pain syndrome
Question: What is (are) Complex regional pain syndrome ?
Answer: Complex regional pain syndrome (CRPS) is a chronic pain condition that mainly affects the arms, legs, hands, and feet, but may involve the entire body. CRPS symptoms often begin after an injury. The main feature of CRPS is continuous, intense pain that is out of proportion to the severity of the injury. The pain gets worse over time and often spreads throughout the entire affected area. Other symptoms may include color and temperature changes of the skin over the affected area; skin sensitivity; sweating; and swelling. The underlying cause of CRPS is often not known. Two classifications of CRPS have been recognized based on causalgia. Type I (also known as reflex sympathetic dystrophy), in which there is no evidence of peripheral nerve injury and Type II, in which peripheral nerve injury is present. Treatment aims to relieve pain and often includes different interventions such as topical or oral medications; physical therapy; and/or a sympathetic nerve block.
(Source: GARD)
Topic: Complex regional pain syndrome
Question: What are the symptoms of Complex regional pain syndrome ?
Answer: What are the signs and symptoms of complex regional pain syndrome? Complex regional pain syndrome (CRPS) usually develops after an injury, surgery, stroke or heart attack. The key symptom of CRPS is continuous, intense pain that is out of proportion to the severity of the injury. The pain gets worse over time. CRPS most often affects one of the arms, legs, hands, or feet, and the pain often spreads throughout the entire affected arm or leg. Other signs and symptoms may include: sensitivity to touch or cold swelling of the painful area changes in skin temperature, color, and/or texture joint stiffness and swelling muscle weakness and/or muscle spasms Symptoms may change over time and vary from person to person. In some people, signs and symptoms of go away on their own. In others, symptoms can persist for months to years.
(Source: GARD)
Topic: Complex regional pain syndrome
Question: What causes Complex regional pain syndrome ?
Answer: What causes complex regional pain syndrome? The underlying cause of complex regional pain syndrome (CRPS) is not well understood. In most cases it occurs after an illness or injury that did not directly damage the nerves in the affected area (Type I). In some cases, it occurs after a specific nerve injury (Type II). The exact trigger of CRPS after an injury is not known, but it may be due to abnormal interactions between the central and peripheral nervous systems, and/or inappropriate inflammatory responses.
(Source: GARD)
Topic: Complex regional pain syndrome
Question: What are the treatments for Complex regional pain syndrome ?
Answer: How might complex regional pain syndrome be treated? There is no known cure for complex regional pain syndrome (CRPS). Treatment includes a multidisciplinary approach with the aim of controlling pain symptoms. It has been suggested that when treatment is started within a few months of when symptoms begin, improvement or remission may be possible. A combination of therapies is usually necessary including medications, physical and occupational therapy, interventional procedures, and psychosocial/behavioral management. Medications used to treat CRPS may include:oral and topical pain relievers; antidepressants or anticonvulsants (which are sometimes used to treat pain); corticosteroids; bone-loss medications; sympathetic nerve-blocking medications; intravenous anesthetics (Ketamine), and/or intravenous immunoglobulin (IVIG). Other therapies used may include applying heat or cold; electrical nerve stimulation; and biofeedback. Interventional procedures may include: trigger/tender point injections; regional sympathetic nerve block; spinal cord stimulation; epiduralclonidine; and chemical or mechanical sympathectomy. Unfortunately, published research studies validating the efficacy of these treatment options are limited and no single drug or therapy (or combination) has shown consistent, long-lasting improvement among affected people. For more information on treatment options for CRPS, click on the following link from the Reflex Sympathetic Dystrophy Association of America (RSDSA) http://rsds.org/treatment or the following link on chronic pain through the National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/chronic_pain/detail_chronic_pain.htm
(Source: GARD)
Topic: Primary hyperparathyroidism
Question: What is (are) Primary hyperparathyroidism ?
Answer: Hyperparathyroidism is an endocrine disorder in which the parathyroid glands in the neck produce too much parathyroid hormone (PTH). Signs and symptoms are often mild and nonspecific, such as a feeling of weakness and fatigue, depression, or aches and pains. With more severe disease, a person may have a loss of appetite, nausea, vomiting, constipation, confusion or impaired thinking and memory, and increased thirst and urination. Patients may have thinning of the bones without symptoms, but with risk of fractures. There are two main types of hyperparathyroidism: primary hyperparathyroidism and secondary hyperparathyroidism. Surgery to remove the parathyroid gland(s) is the main treatment for the disorder. Some patients with mild disease do not require treatment.
(Source: GARD)
Topic: Wildervanck syndrome
Question: What is (are) Wildervanck syndrome ?
Answer: Wildervanck syndrome is a condition that occurs almost exclusively in females and affects the bones in the neck, the eyes, and the ears.  It is characterized by Klippel-Feil anomaly (in which the bones of the neck fuse together), Duane syndrome (an eye movement disorder that is present from birth), and hearing loss.   The cause of Wildervanck syndrome is unknown.  In most cases, affected individuals have no family history of the condition.
(Source: GARD)