sarnsrun/medquad huggingface dataset:
Topic: Polyglucosan body disease, adult
Question: What is (are) Polyglucosan body disease, adult ?
Answer: Polyglucosan body disease affects the nervous system. Individuals with this condition usually begin to show signs of the disorder after the age of 40. Signs and symptoms include trouble walking due to decreased sensation in the legs (peripheral neuropathy) and muscle weakness and stiffness (spasticity). Individuals may also have trouble controlling bladder function as a result of damage to the nerves of the bladder (neurogenic bladder). Approximately half of the individuals with adult polyglucosan body disease also experience some degree of intellectual impairment. Mutations in the GBE1 gene can cause adult polyglucosan body disease. In some cases, no mutation can be found and the cause of the disease is not known. Adult polyglucosan body disease is thought to be inherited in an autosomal recessive manner. Treatment usually involves a team of specialists who can address the specific symptoms such as walking difficulties, incontinence, and intellectual impairment.
Source: GARD
Topic: Polyglucosan body disease, adult
Question: What are the symptoms of Polyglucosan body disease, adult ?
Answer: What are the signs and symptoms of Polyglucosan body disease, adult? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyglucosan body disease, adult. 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) Abnormal pyramidal signs 90% Abnormal renal physiology 90% Cognitive impairment 90% Erectile abnormalities 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hypertonia 90% Muscle weakness 90% Peripheral neuropathy 90% Behavioral abnormality 50% Skin ulcer 50% Abnormality of extrapyramidal motor function 7.5% Developmental regression 7.5% EMG abnormality 7.5% Incoordination 7.5% Limitation of joint mobility 7.5% Abnormal upper motor neuron morphology - Abnormality of metabolism/homeostasis - Adult onset - Autosomal recessive inheritance - Distal sensory impairment - Paresthesia - Slow progression - Tetraparesis - 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: Intervertebral disc disease
Question: What is (are) Intervertebral disc disease ?
Answer: Intervertebral disc disease (IDD) is a common musculoskeletal condition that primarily affects the back. It is characterized by intervertebral disc herniation and/or sciatic pain (sciatica) and is a primary cause of low back pain, affecting about 5% of individuals. Both environmental and genetic factors are thought to predispose an individual to developing the condition. Treatment for IDD may include physical therapy, pain medications, and sometimes surgical intervention such as discectomy or spinal fusion.
Source: GARD
Topic: Intervertebral disc disease
Question: What causes Intervertebral disc disease ?
Answer: What causes intervertebral disc disease? Intervertebral disc disease (IDD) is a multifactorial disorder, which means that both genetic and environmental factors probably interact to predispose an individual to the condition. It is likely that several factors are needed for development of IDD. Factors such as occupational stress, trauma, or obesity, together with genetic alterations, may result in the structural weakness of a disc, cause a herniation, and possibly initiate a cascade of events leading to sciatica and pathological disc changes. One of the best-known environmental risk factors for IDD is vibration in occupational driving. Inflammation is also likely to play an important role in the progression of this process.
Source: GARD
Topic: Intervertebral disc disease
Question: What are the treatments for Intervertebral disc disease ?
Answer: How might intervertebral disc disease be treated? In the absence of red flags, the initial approach to treatment is typically conservative and includes physical therapy and pain medications. In 90% of affected individuals, acute attacks of sciatica usually improve within 4 to 6 weeks without surgical intervention. In cases where surgical intervention is necessary, surgical procedures may include discectomy or spinal fusion.
Source: GARD
Topic: Brachyolmia
Question: What are the symptoms of Brachyolmia ?
Answer: What are the signs and symptoms of Brachyolmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachyolmia. 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) Platyspondyly 90% Short stature 90% Short thorax 90% 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: Fowler's syndrome
Question: What is (are) Fowler's syndrome ?
Answer: Fowlers syndrome is characterized by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease. Some women with this syndrome have polycystic ovaries as well.
Source: GARD
Topic: Fowler's syndrome
Question: What are the symptoms of Fowler's syndrome ?
Answer: What are the signs and symptoms of Fowler's syndrome? Fowlers syndrome typically occurs in premenopausal women (often in women under 30 years of age) who are unable to void for a day or more with no feeling of urinary urgency, but with increasing lower abdominal discomfort. The Human Phenotype Ontology provides the following list of signs and symptoms for Fowler's 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) Abnormality of the urethra 90% Acne 90% Hypertrichosis 90% Polycystic ovaries 90% 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: Fowler's syndrome
Question: What causes Fowler's syndrome ?
Answer: What causes Fowlers syndrome? The cause of Fowler's syndrome is not known. The association of Fowlers syndrome and polycystic ovaries in some patients raises the possibility that the syndrome is linked in some way to impaired muscle membrane stability, owing possibly to a hormonal abnormality. The involvement of such a hormonal abnormality may also explain why it primarily affects premenopausal women.
Source: GARD
Topic: Fowler's syndrome
Question: How to diagnose Fowler's syndrome ?
Answer: How is Fowlers syndrome diagnosed? Diagnosis of Fowlers syndrome involves ruling out neurological or laboratory features that would support a diagnosis of a underlying neurological disease, and identification of a bladder capacity of over 1 liter with no sensation of urgency. Also in Fowlers syndrome, analysis of the striated muscle of the urethral sphincter using concentric needle electrode examination reveals a fairly unique electromyographic (EMG) abnormality. This EMG abnormality is found in association with the urethral sphincter (group of muscles which surround the urinary passage below the bladder), and consists of a type of activity that would be expected to cause inappropriate contraction of the muscle (i.e., impair sphincter relaxation).
Source: GARD
Topic: Fowler's syndrome
Question: What are the treatments for Fowler's syndrome ?
Answer: How might Fowlers syndrome be treated? The urinary incontinence caused by Fowlers syndrome may be treated by sacral neuromodulation therapy. The success rate for treatment of Fowlers syndrome with neuromodulation has been estimated to be around 70%, even in women who have been experiencing symptoms for a while. Neuromodulation therapy involves the stimulation of nerves to the bladder leaving the spine. The FDA has approved a device called InterStim for this purpose. Your doctor will need to test to determine if this device would be helpful to you. The doctor applies an external stimulator to determine if neuromodulation works in you. If you have a 50 percent reduction in symptoms, a surgeon will implant the device. Although neuromodulation can be effective, it is not for everyone. The therapy is expensive, involving surgery with possible surgical revisions and replacement. Other treatments that have been tried with little success include hormonal manipulation, pharmacologic therapy, and injections of botulinum toxin.
Source: GARD
Topic: Catamenial pneumothorax
Question: What is (are) Catamenial pneumothorax ?
Answer: Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax. Treatment is with hormones and surgery.
Source: GARD
Topic: Catamenial pneumothorax
Question: What are the symptoms of Catamenial pneumothorax ?
Answer: What are the signs and symptoms of Catamenial pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Catamenial pneumothorax. 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 - Decreased fertility - Dysmenorrhea - Endometriosis - Multifactorial 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: Catamenial pneumothorax
Question: What causes Catamenial pneumothorax ?
Answer: What causes catamenial pneumothorax? The exact cause is not known. However, spontaneous collapse of the lung (pneumothorax) occurs in 72% to 73% of cases of thoracic endometriosis. Thoracic endometriosis is a condition in which endometrial tissue is present in the chest (thoracic) cavity. It is more often seen in women who are about 34 years old. Thoracic endometriosis can be found in most cases of catamenial pneumothorax. Pneumothorax associated with endometriosis may also occur without being related with menstruation (non-catamenial pneumothorax) even in cases with no symptoms or without diagnosis of pelvic endometriosis.
Source: GARD
Topic: Catamenial pneumothorax
Question: How to diagnose Catamenial pneumothorax ?
Answer: How might catamenial pneumothorax be diagnosed? The diagnosis should be suspected in women of reproductive age who have several episodes of spontaneous lung collapse (pneumothoraces) and have endometriosis. Medical thoracoscopy or video-assisted thoracoscopy may confirm the diagnosis.
Source: GARD
Topic: Catamenial pneumothorax
Question: What are the treatments for Catamenial pneumothorax ?
Answer: How might catamenial pneumothorax be treated? Treatment of choice is with surgery, with video-assisted thoracoscopic surgery (VATS). Conventional thoracotomy may be occasionally necessary, particularly in repeat operations. It is very important to examine the large, thin tissue lining around the outside of the lungs and the inside of the chest cavity (pleura).  Hormonal treatment with surgery prevents the repeat of catamenial and/or endometriosis-related pneumothorax. Gonadotrophin-releasing hormone (GnRH) for 6 to 12 months after the surgery is also often recommended.
Source: GARD
Topic: Paget disease of bone, familial
Question: What are the symptoms of Paget disease of bone, familial ?
Answer: What are the signs and symptoms of Paget disease of bone, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone, familial. 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) Hearing impairment 5% Autosomal dominant inheritance - Bone pain - Elevated alkaline phosphatase - Fractures of the long bones - Osteosarcoma - Patchy osteosclerosis - 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: Brachydactyly type A5
Question: What are the symptoms of Brachydactyly type A5 ?
Answer: What are the signs and symptoms of Brachydactyly type A5? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A5. 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 metacarpal bones 90% Anonychia 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Brachydactyly syndrome 90% Proximal placement of thumb 90% Short distal phalanx of finger 90% Short toe 90% Abnormality of thumb phalanx 7.5% Finger syndactyly 7.5% Preaxial foot polydactyly 7.5% Symphalangism affecting the phalanges of the hand 7.5% Synostosis of carpal bones 7.5% 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: Hereditary cerebral hemorrhage with amyloidosis
Question: What is (are) Hereditary cerebral hemorrhage with amyloidosis ?
Answer: Cerebral amyloid angiopathy (CAA) is a neurological condition in which amyloid protein is deposited onto the walls of the arteries of the brain (and less frequently, veins).  Although CAA often does not cause symptoms, it may cause bleeding into the brain (hemorrhagic stroke), dementia, or neurologic episodes in some patients.  The majority of CAA cases occur in individuals who do not have a family history. However, two familial forms of CAA have been identified.
Source: GARD
Topic: Hereditary cerebral hemorrhage with amyloidosis
Question: What are the symptoms of Hereditary cerebral hemorrhage with amyloidosis ?
Answer: What symptoms may be associated with hereditary cerebral hemorrhage with amyloidosis - Dutch type? Approximately 87% of individuals with hereditary cerebral hemorrhage with amyloidosis - Dutch type have intracranial hemorrhage (bleeding in the brain) and 13% have infarcts (stroke). The first stroke usually occurs between the ages of 45 and 65 years, and is not caused by hypertension or hemorrhagic diathesis (bleeding tendency). Nausea, vomiting, progressive headache, focal neurological signs (double or decreased vision, speech difficulties, confusion, delirium, weakness or paralysis, sensation changes or loss of sensation, progressive intellectual deterioration and memory disturbance) and impairment of consciousness are the most frequent signs and symptoms. Psychiatric abnormalities, including dementia are also common, with some patients developing dementia without intracranial hemorrhage.
Source: GARD
Topic: Hereditary cerebral hemorrhage with amyloidosis
Question: What causes Hereditary cerebral hemorrhage with amyloidosis ?
Answer: What causes hereditary cerebral hemorrhage with amyloidosis - Dutch type? The clinical symptoms of hereditary cerebral hemorrhage with amyloidosis - Dutch type are caused by the build-up of a protein called amyloid within the arterial walls of the brain. This protein build-up causes bleeding into the brain. The symptoms occur because bleeding in the brain harms brain tissue. Hereditary cerebral hemorrhage with amyloidosis-Dutch type is an autosomal dominant disorder with complete penetrance (all individuals who inherit the mutated gene will develop the condition). The likely genetic defect is in the amyloid protein precursor protein (APP) gene on chromosome 21.
Source: GARD
Topic: Hereditary cerebral hemorrhage with amyloidosis
Question: Is Hereditary cerebral hemorrhage with amyloidosis inherited ?
Answer: Since I have a family history of hereditary cerebral hemorrhage with amyloidosis, what are the chances that I inherited the condition? To find out your chances of having hereditary cerebral hemorrhage with amyloidosis, you may want to speak with a genetics professional. A genetics professionl can review your medical and family history in order to provide you with your specific risks. To learn more about genetic consultations, click here.
Source: GARD
Topic: Hereditary cerebral hemorrhage with amyloidosis
Question: What are the treatments for Hereditary cerebral hemorrhage with amyloidosis ?
Answer: How might hereditary cerebral hemorrhage with amyloidosis - Dutch type be treated? There is no known effective treatment for hereditary cerebral hemorrhage with amyloidosis - Dutch type. Treatment is supportive and based on the control of symptoms. In some cases, rehabilitation is needed for weakness or clumsiness. This can include physical, occupational, or speech therapy. Occasionally, some patients are good candidates for medications that can help improve memory. The management of intracranial hemorrhage (ICH) related to hereditary cerebral hemorrhage with amyloidosis - Dutch type is identical to the standard management of ICH. The main objectives include reversing anticoagulation, managing intracranial pressure, and preventing complications.
Source: GARD
Topic: Diffuse idiopathic skeletal hyperostosis
Question: What is (are) Diffuse idiopathic skeletal hyperostosis ?
Answer: Diffuse idiopathic skeletal hyperostosis (DISH) is a form of degenerative arthritis in which the ligaments (connective tissues that connect bones) around the spine turn into bone. Many people with this condition do not experience any symptoms. When present, the most common features are pain and stiffness of the upper back; however, other symptoms may also develop when bone spurs press on nearby organs or parts of the body. The exact underlying cause of DISH remains unknown, although risk factors such as age, gender, long-term use of certain medications and chronic health conditions have been identified. Treatment for DISH depends on many factors including the signs and symptoms present in each person and the severity of the condition.
Source: GARD