bowang0911/MedQuAD huggingface dataset:
Creutzfeldt-Jakob disease (CJD) is a rare fatal brain disorder that usually occurs later in life and runs a rapid course. In the early stages of the disease, patients may have failing memory, behavior changes, impaired coordination, and vision problems. As CJD progresses, mental deterioration becomes severe, and they can have uncontrolled movements, blindness, weakness, and go into a coma. This condition often leads to death within a few weeks or months after symptoms begin. About 90 percent of patients do not survive for more than one year. In the United States, about 300 people are diagnosed with this condition each year. It occurs in approximately one in every one million people worldwide. CJD can be very difficult to diagnose because it is similar to other forms of dementia. The only way to confirm the diagnosis is to test a small sample of brain tissue, which can be done by brain biopsy or autopsy. CJD is caused by the build up of abnormal prion proteins in the brain. For most patients, the reason for the abnormal prions is unknown (sporadic CJD). About 5 to 10 percent of cases are due to an inherited genetic mutation associated with CJD (familial CJD). This condition can also be acquired through contact with infected brain tissue (iatrogenic CJD) or consuming infected beef (variant CJD). There is no specific treatment for CJD, so the goal is to make a person as comfortable as possible.
What are the signs and symptoms of Creutzfeldt-Jakob disease? Creutzfeldt-Jakob disease (CJD) is characterized by rapidly progressive dementia. Initially, patients experience problems with muscular coordination; personality changes, including impaired memory, judgment, and thinking; and impaired vision. People with the disease also may experience insomnia, depression, or unusual sensations. CJD does not cause a fever or other flu-like symptoms. As the illness progresses, the patients mental impairment becomes severe. They often develop involuntary muscle jerks called myoclonus, and they may go blind. They eventually lose the ability to move and speak and enter a coma. Pneumonia and other infections often occur in these patients and can lead to death. There are several known variants of CJD. These variants differ somewhat in the symptoms and course of the disease. For example, a variant form of the disease-called new variant or variant (nv-CJD, v-CJD), described in Great Britain and France-begins primarily with psychiatric symptoms, affects younger patients than other types of CJD, and has a longer than usual duration from onset of symptoms to death. Another variant, called the panencephalopathic form, occurs primarily in Japan and has a relatively long course, with symptoms often progressing for several years. Scientists are trying to learn what causes these variations in the symptoms and course of the disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Creutzfeldt-Jakob disease. 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) Increased CSF protein 5% Anxiety - Apathy - Aphasia - Autosomal dominant inheritance - Confusion - Delusions - Dementia - Depression - Extrapyramidal muscular rigidity - Gait ataxia - Hallucinations - Hemiparesis - Irritability - Loss of facial expression - Memory impairment - Myoclonus - Personality changes - Rapidly progressive - Supranuclear gaze palsy - Visual impairment - 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.
What causes Creutzfeldt-Jakob disease? Some researchers believe an unusual 'slow virus' or another organism causes Creutzfeldt-Jakob disease (CJD). However, they have never been able to isolate a virus or other organism in people with the disease. Furthermore, the agent that causes CJD has several characteristics that are unusual for known organisms such as viruses and bacteria. It is difficult to kill, it does not appear to contain any genetic information in the form of nucleic acids (DNA or RNA), and it usually has a long incubation period before symptoms appear. In some cases, the incubation period may be as long as 40 years. The leading scientific theory at this time maintains that CJD and the other TSEs are caused by a type of protein called a prion. Prion proteins occur in both a normal form, which is a harmless protein found in the bodys cells, and in an infectious form, which causes disease. The harmless and infectious forms of the prion protein have the same sequence of amino acids (the 'building blocks' of proteins) but the infectious form of the protein takes a different folded shape than the normal protein. Sporadic CJD may develop because some of a persons normal prions spontaneously change into the infectious form of the protein and then alter the prions in other cells in a chain reaction. Once they appear, abnormal prion proteins aggregate, or clump together. Investigators think these protein aggregates may lead to the neuron loss and other brain damage seen in CJD. However, they do not know exactly how this damage occurs. About 5 to 10 percent of all CJD cases are inherited. These cases arise from a mutation, or change, in the gene that controls formation of the normal prion protein. While prions themselves do not contain genetic information and do not require genes to reproduce themselves, infectious prions can arise if a mutation occurs in the gene for the bodys normal prion protein. If the prion protein gene is altered in a persons sperm or egg cells, the mutation can be transmitted to the persons offspring. Several different mutations in the prion gene have been identified. The particular mutation found in each family affects how frequently the disease appears and what symptoms are most noticeable. However, not all people with mutations in the prion protein gene develop CJD.
How is Creutzfeldt-Jakob disease diagnosed? There is currently no single diagnostic test for Creutzfeldt-Jakob disease (CJD). When a doctor suspects CJD, the first concern is to rule out treatable forms of dementia such as encephalitis (inflammation of the brain) or chronic meningitis. A neurological examination will be performed and the doctor may seek consultation with other physicians. Standard diagnostic tests will include a spinal tap to rule out more common causes of dementia and an electroencephalogram (EEG) to record the brains electrical pattern, which can be particularly valuable because it shows a specific type of abnormality in CJD. Computerized tomography of the brain can help rule out the possibility that the symptoms result from other problems such as stroke or a brain tumor. Magnetic resonance imaging (MRI) brain scans also can reveal characteristic patterns of brain degeneration that can help diagnose CJD. The only way to confirm a diagnosis of CJD is by brain biopsy or autopsy. In a brain biopsy, a neurosurgeon removes a small piece of tissue from the patients brain so that it can be examined by a neuropathologist. This procedure may be dangerous for the patient, and the operation does not always obtain tissue from the affected part of the brain. Because a correct diagnosis of CJD does not help the patient, a brain biopsy is discouraged unless it is needed to rule out a treatable disorder. In an autopsy, the whole brain is examined after death. Scientists are working to develop laboratory tests for CJD. One such test, developed at the National Institute of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health (NIH), studies a person's cerebrospinal fluid to see of it contains a protein marker that indicates neuronal degeneration.This can help to diagnose CJD in people who already show the clinical symptoms of the disease. This test is much easier and safer than a brain biopsy. The false positive rate is about 5 to 10 percent. Scientists are working to develop this test for use in commercial laboratories. They are also working to develop other tests for this disorder.
How might Creutzfeldt-Jakob disease be treated? There is no treatment that can cure or control Creutzfeldt-Jakob disease (CJD). Researchers have tested many drugs, including amantadine, steroids, interferon, acyclovir, antiviral agents, and antibiotics. Studies of a variety of other drugs are now in progress. However, so far none of these treatments has shown any consistent benefit in humans. Current treatment for CJD is aimed at alleviating symptoms and making the patient as comfortable as possible. Opiate drugs can help relieve pain if it occurs, and the drugs clonazepam and sodium valproate may help relieve myoclonus. During later stages of the disease, changing the persons position frequently can keep him or her comfortable and helps prevent bedsores. A catheter can be used to drain urine if the patient cannot control bladder function, and intravenous fluids and artificial feeding also may be used.
Chronic progressive external ophthalmoplegia (CPEO) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in early adulthood and most commonly include weakness or paralysis of the muscles that move the eye (ophthalmoplegia) and drooping of the eyelids (ptosis). Some affected individuals also have general weakness of the skeletal muscles (myopathy), which may be especially noticeable during exercise. Muscle weakness may also cause difficulty swallowing (dysphagia). CPEO can be caused by mutations in any of several genes, which may be located in mitochondrial DNA or nuclear DNA. It has different inheritance patterns depending on the gene involved in the affected individual. CPEO can occur as part of other underlying conditions, such as ataxia neuropathy spectrum and Kearns-Sayre syndrome. These conditions may not only involve CPEO, but various additional features that are not shared by most individuals with CPEO.
Is chronic progressive external ophthalmoplegia inherited? Chronic progressive external ophthalmoplegia (CPEO) can be inherited, or it can occur sporadically (due to a new mutation in an individual with no history of the condition in the family). CPEO is considered a "mitochondrial disorder." This is because all the genetic mutations that can cause CPEO ultimately result in dysfunction of the mitochondria, which are structures in our cells that produce energy required for normal cell function. While most of our DNA is located in the cell's center (nuclear DNA), some of our DNA is located within the mitochondria (mitochondrial DNA). CPEO can be caused by mutations in any of several genes, which may be located in mitochondrial DNA or nuclear DNA. It has different inheritance patterns depending on the gene involved in the affected individual. Unlike nuclear DNA which is inherited from both the mother and the father, mitochondrial DNA is inherited from only the mother. In CPEO, the affected mitochondria (i.e., the ones carrying the mutations) are found only in the skeletal muscle cells. These mitochondrial DNA mutations are almost always sporadic (occurring by chance for the first time in the affected individual). Nuclear gene mutations that cause CPEO may be inherited in an autosomal recessive or autosomal dominant manner, depending on the gene involved. The risk for other family members to be affected depends on the genetic cause and the inheritance pattern in the family.
How might chronic progressive external ophthalmoplegia be treated? Ptosis caused by chronic progressive external ophthalmoplegia (CPEO) can be corrected by surgery, or by using glasses that have a ptosis crutch to lift the upper eyelids. Strabismus surgery can be helpful in carefully selected patients if diplopia (double vision) occurs. Some individuals with a deficiency of coenzyme Q10 have CPEO as an associated abnormality. Coenzyme Q10 is important for normal mitochondrial function. In individuals with this deficiency, supplemental coenzyme Q10 has been found to improve general neurologic function and exercise tolerance. However, coenzyme Q10 has not been shown to improve the ophthalmoplegia or ptosis in people who have isolated CPEO.
Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip and/or a cleft palate. Affected individuals may have depressions (pits) near the center of the lower lip and small mounds of tissue on the lower lip. In some cases, people with popliteal pterygium syndrome have missing teeth. Other features may include webs of skin on the backs of the legs across the knee joint, webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, and tissue connecting the upper and lower eyelids or the upper and lower jaw. Affected individuals may also have abnormal genitals. This condition is inherited in an autosomal dominant fashion and is caused by mutations in the IRF6 gene.
What are the signs and symptoms of Popliteal pterygium syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Popliteal pterygium 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) Cleft palate 90% Hypertrichosis 90% Limitation of joint mobility 90% Thin vermilion border 90% Toe syndactyly 90% Abnormality of female external genitalia 50% Abnormality of the palpebral fissures 50% Abnormality of the ribs 50% Abnormality of the toenails 50% Bifid scrotum 50% Cryptorchidism 50% Finger syndactyly 50% Lip pit 50% Non-midline cleft lip 50% Popliteal pterygium 50% Scoliosis 50% Scrotal hypoplasia 50% Talipes 50% Choanal atresia 7.5% Cognitive impairment 7.5% Split hand 7.5% Ankyloblepharon - Autosomal dominant inheritance - Cleft upper lip - Cutaneous finger syndactyly - Dementia - Fibrous syngnathia - Hypoplasia of the uterus - Hypoplasia of the vagina - Hypoplastic labia majora - Intercrural pterygium - Lower lip pit - Pyramidal skinfold extending from the base to the top of the nails - Spina bifida occulta - 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.
What are the signs and symptoms of Spinal muscular atrophy type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy type 3. 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 of lower limbs - Autosomal recessive inheritance - Degeneration of anterior horn cells - EMG abnormality - Hand tremor - Hyporeflexia - Limb fasciculations - Muscle cramps - Muscle weakness - Progressive - Spinal muscular atrophy - Tongue fasciculations - 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.
Familial esophageal achalasia refers to a cluster of achalasia within a family. Achalasia is a condition that affects the esophagus, the tube that carries food from the mouth to the stomach. In people with achalasia, the normal muscle activity of the esophagus is reduced and the muscular valve where the esophagus and the stomach meet doesn't fully relax. This makes it difficult for food to move from the esophagus to the stomach. As a result, people with achalasia may experience regurgitation of food, chest pain, cough, difficulty swallowing, heartburn, and/or unintentional weight loss. Reports of familial esophageal achalasia are rare and represent less than 1% of all achalasia cases. In these families, the underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner. Treatment aims to allow food to pass more easily into this stomach and may include injections with botulinum toxin (Botox), certain medications and/or surgery.
What are the signs and symptoms of Familial esophageal achalasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial esophageal achalasia. 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) Achalasia - Autosomal recessive inheritance - Keratoconjunctivitis sicca - Rheumatoid arthritis - Xerostomia - 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.
Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In the United States and many other countries, all newborns are tested for congenital hypothyroidism as part of newborn screening. If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. If treatment begins in the first month after birth, infants usually develop normally. Treatment involves medication to replace the missing thyroid hormones, such as levothyroxine. Most cases of congenital hypothyroidism occur in people with no history of the disorder in their family. About 15-20% of cases are due to an underlying gene mutation. Rarely, congenital hypothyroidism can be a symptom included in a larger genetic disorder called a syndrome.
What are the signs and symptoms of Congenital hypothyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital hypothyroidism. 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 fontanelles or cranial sutures 90% Abnormality of the liver 90% Abnormality of the tongue 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Constipation 90% Hypothyroidism 90% Muscular hypotonia 90% Sleep disturbance 90% Umbilical hernia 90% Coarse facial features 50% Cognitive impairment 50% Depressed nasal ridge 50% Dry skin 50% Hypothermia 50% Short stature 50% Sinusitis 50% Thickened skin 50% Abnormality of epiphysis morphology 7.5% Abnormality of reproductive system physiology 7.5% Abnormality of the pericardium 7.5% Anterior hypopituitarism 7.5% Arrhythmia 7.5% Cataract 7.5% Goiter 7.5% Hearing impairment 7.5% Hypertension 7.5% Hypotension 7.5% Intestinal obstruction 7.5% Nephrolithiasis 7.5% Optic atrophy 7.5% Oral cleft 7.5% Paresthesia 7.5% Tracheoesophageal fistula 7.5% Autosomal recessive inheritance - Congenital hypothyroidism - Infantile onset - Thyroid hypoplasia - Thyroid-stimulating hormone excess - 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.