umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Bronchiectasis ?

Answer: Bronchiectasis (brong-ke-EK-ta-sis) is a condition in which damage to the airways causes them to widen and become flabby and scarred. The airways are tubes that carry air in and out of your lungs.
                
Bronchiectasis usually is the result of an infection or other condition that injures the walls of your airways or prevents the airways from clearing mucus. Mucus is a slimy substance that the airways produce to help remove inhaled dust, bacteria, and other small particles.
                
In bronchiectasis, your airways slowly lose their ability to clear out mucus. When mucus can't be cleared, it builds up and creates an environment in which bacteria can grow. This leads to repeated, serious lung infections.
                
Each infection causes more damage to your airways. Over time, the airways lose their ability to move air in and out. This can prevent enough oxygen from reaching your vital organs.
                
Bronchiectasis can lead to serious health problems, such as respiratory failure, atelectasis (at-eh-LEK-tah-sis), and heart failure.
                
Bronchiectasis
                

                
Overview
                
Bronchiectasis can affect just one section of one of your lungs or many sections of both lungs.
                
The initial lung damage that leads to bronchiectasis often begins in childhood. However, symptoms may not occur until months or even years after you start having repeated lung infections.
                
In the United States, common childhood infectionssuch as whooping cough and measlesused to cause many cases of bronchiectasis. However, these causes are now less common because of vaccines and antibiotics.
                
Now bronchiectasis usually is due to a medical condition that injures the airway walls or prevents the airways from clearing mucus. Examples of such conditions include cystic fibrosis and primary ciliary (SIL-e-ar-e) dyskinesia (dis-kih-NE-ze-ah), or PCD.
                
Bronchiectasis that affects only one part of the lung may be caused by a blockage rather than a medical condition.
                
Bronchiectasis can be congenital (kon-JEN-ih-tal) or acquired. Congenital bronchiectasis affects infants and children. It's the result of a problem with how the lungs form in a fetus.
                
Acquired bronchiectasis occurs as a result of another condition or factor. This type of bronchiectasis can affect adults and older children. Acquired bronchiectasis is more common than the congenital type.
                
Outlook
                
Currently, bronchiectasis has no cure. However, with proper care, most people who have it can enjoy a good quality of life.
                
Early diagnosis and treatment of bronchiectasis are important. The sooner your doctor starts treating bronchiectasis and any underlying conditions, the better your chances of preventing further lung damage.
Question: What is (are) multiminicore disease ?

Answer: Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal muscles). This condition causes muscle weakness and related health problems that range from mild to life-threatening.  Researchers have identified at least four forms of multiminicore disease, which can be distinguished by their characteristic signs and symptoms. The most common form, called the classic form, causes muscle weakness beginning in infancy or early childhood. This weakness is most noticeable in muscles of the trunk and neck (axial muscles) and is less severe in the arm and leg muscles. Muscle weakness causes affected infants to appear "floppy" (hypotonic) and can delay the development of motor skills such as sitting, standing, and walking. The disease causes muscles of the ribcage and spine to stiffen. When combined with weakness of the muscles needed for breathing, this stiffness leads to severe or life-threatening respiratory problems. Almost all children with multiminicore disease develop an abnormal curvature of the spine (scoliosis), which appears during childhood and steadily worsens over time.  Other forms of multiminicore disease have different patterns of signs and symptoms. They are less common than the classic form, together accounting for about 25 percent of all cases. The atypical forms of the condition tend to be milder and cause few or no problems with breathing. The moderate form with hand involvement causes muscle weakness and looseness of the joints, particularly in the arms and hands. Another form of multiminicore disease, known as the antenatal form with arthrogryposis, is characterized by stiff, rigid joints throughout the body (arthrogryposis), distinctive facial features, and other birth defects. Paralysis of the eye muscles (external ophthalmoplegia) is a primary feature of another atypical form of multiminicore disease. This form of the condition also causes general muscle weakness and feeding difficulties that appear in the first year of life.  Many people with multiminicore disease also have an increased risk of a developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia. Malignant hyperthermia occurs in response to some anesthetic gases, which are used to block the sensation of pain, and with a particular type of muscle relaxant. If given these drugs, people at risk for malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. The complications of malignant hyperthermia can be life-threatening unless they are treated promptly.  Multiminicore disease gets its name from small, disorganized areas called minicores, which are found in muscle fibers of many affected individuals. These abnormal regions can only be seen under a microscope. Although the presence of minicores can help doctors diagnose multiminicore disease, it is unclear how they are related to muscle weakness and the other features of this condition.
Question: What are the symptoms of Methylmalonic acidemia with homocystinuria ?

Answer: What are the signs and symptoms of Methylmalonic acidemia with homocystinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria. 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 oral cavity 90% Anorexia 90% Cognitive impairment 90% Feeding difficulties in infancy 90% Hydrocephalus 90% Megaloblastic anemia 90% Microcephaly 90% Muscular hypotonia 90% Pallor 90% Reduced consciousness/confusion 90% Retinopathy 90% Seizures 90% Behavioral abnormality 50% Gait disturbance 50% Infantile onset 50% Skin rash 7.5% Abnormality of extrapyramidal motor function - Autosomal recessive inheritance - Cerebral cortical atrophy - Confusion - Cystathioninemia - Cystathioninuria - Decreased adenosylcobalamin - Decreased methionine synthase activity - Decreased methylcobalamin - Decreased methylmalonyl-CoA mutase activity - Dementia - Failure to thrive - Hematuria - Hemolytic-uremic syndrome - High forehead - Homocystinuria - Hyperhomocystinemia - Hypomethioninemia - Intellectual disability - Lethargy - Long face - Low-set ears - Macrotia - Metabolic acidosis - Methylmalonic acidemia - Methylmalonic aciduria - Nephropathy - Neutropenia - Nystagmus - Pigmentary retinopathy - Proteinuria - Reduced visual acuity - Renal insufficiency - Smooth philtrum - Thrombocytopenia - Thromboembolism - Tremor - 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.
Question: What are the symptoms of Mucopolysaccharidosis type VII ?

Answer: What are the signs and symptoms of Mucopolysaccharidosis type VII? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VII. 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 pleura 90% Ascites 90% Coarse facial features 90% Cognitive impairment 90% Lymphedema 90% Malar flattening 90% Opacification of the corneal stroma 90% Recurrent respiratory infections 90% Scoliosis 90% Short stature 90% Umbilical hernia 90% Abnormality of the hip bone 50% Abnormality of the liver 50% Epiphyseal stippling 50% Hydrops fetalis 50% Limitation of joint mobility 50% Muscular hypotonia 50% Splenomegaly 50% Talipes 50% Arteriovenous malformation 7.5% Enlarged thorax 7.5% Short neck 7.5% Abnormality of the heart valves - Acetabular dysplasia - Anterior beaking of lower thoracic vertebrae - Anterior beaking of lumbar vertebrae - Autosomal recessive inheritance - Corneal opacity - Dermatan sulfate excretion in urine - Dysostosis multiplex - Flexion contracture - Hearing impairment - Hepatomegaly - Hirsutism - Hydrocephalus - Hypoplasia of the odontoid process - Inguinal hernia - Intellectual disability - J-shaped sella turcica - Macrocephaly - Narrow greater sacrosciatic notches - Neurodegeneration - Pectus carinatum - Platyspondyly - Postnatal growth retardation - Proximal tapering of metacarpals - Thoracolumbar kyphosis - Urinary glycosaminoglycan excretion - 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.
Question: What are the symptoms of Marshall syndrome ?

Answer: What are the signs and symptoms of Marshall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marshall 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) Anteverted nares 90% Aplasia/Hypoplasia involving the nose 90% Arthralgia 90% Depressed nasal bridge 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Long philtrum 90% Malar flattening 90% Myopia 90% Sensorineural hearing impairment 90% Short stature 90% Thick lower lip vermilion 90% Abnormal hair quantity 50% Abnormality of the vitreous humor 50% Cleft palate 50% Craniofacial hyperostosis 50% Genu valgum 50% Glaucoma 50% Hypohidrosis 50% Osteoarthritis 50% Proptosis 50% Retinal detachment 50% Visual impairment 50% Aplasia/Hypoplasia of the eyebrow 7.5% Frontal bossing 7.5% Nystagmus 7.5% Absent frontal sinuses - Autosomal dominant inheritance - Calcification of falx cerebri - Congenital cataract - Coxa valga - Epicanthus - Esotropia - Flat midface - Hypoplastic ilia - Irregular distal femoral epiphysis - Irregular proximal tibial epiphyses - Lens luxation - Low-set ears - Macrodontia of permanent maxillary central incisor - Meningeal calcification - Pierre-Robin sequence - Platyspondyly - Radial bowing - Short nose - Small distal femoral epiphysis - Small proximal tibial epiphyses - Thick upper lip vermilion - Thickened calvaria - Ulnar bowing - Vitreoretinal degeneration - Wide tufts of distal phalanges - 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.
Question: What are the symptoms of Creutzfeldt-Jakob disease ?

Answer: 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.
Question: What is (are) collagen VI-related myopathy ?

Answer: Collagen VI-related myopathy is a group of disorders that affect skeletal muscles (which are the muscles used for movement) and connective tissue (which provides strength and flexibility to the skin, joints, and other structures throughout the body). Most affected individuals have muscle weakness and joint deformities called contractures that restrict movement of the affected joints and worsen over time. Researchers have described several forms of collagen VI-related myopathy, which range in severity: Bethlem myopathy is the mildest, an intermediate form is moderate in severity, and Ullrich congenital muscular dystrophy is the most severe.  People with Bethlem myopathy usually have loose joints (joint laxity) and weak muscle tone (hypotonia) in infancy, but they develop contractures during childhood, typically in their fingers, wrists, elbows, and ankles. Muscle weakness can begin at any age but often appears in childhood to early adulthood. The muscle weakness is slowly progressive, with about two-thirds of affected individuals over age 50 needing walking assistance. Older individuals may develop weakness in respiratory muscles, which can cause breathing problems. Some people with this mild form of collagen VI-related myopathy have skin abnormalities, including small bumps called follicular hyperkeratosis on the arms and legs; soft, velvety skin on the palms of the hands and soles of the feet; and abnormal wound healing that creates shallow scars.  The intermediate form of collagen VI-related myopathy is characterized by muscle weakness that begins in infancy. Affected children are able to walk, although walking becomes increasingly difficult starting in early adulthood. They develop contractures in the ankles, elbows, knees, and spine in childhood. In some affected people, the respiratory muscles are weakened, requiring people to use a machine to help them breathe (mechanical ventilation), particularly during sleep.  People with Ullrich congenital muscular dystrophy have severe muscle weakness beginning soon after birth. Some affected individuals are never able to walk and others can walk only with support. Those who can walk often lose the ability, usually in adolescence. Individuals with Ullrich congenital muscular dystrophy develop contractures in their neck, hips, and knees, which further impair movement. There may be joint laxity in the fingers, wrists, toes, ankles, and other joints. Some affected individuals need continuous mechanical ventilation to help them breathe. As in Bethlem myopathy, some people with Ullrich congenital muscular dystrophy have follicular hyperkeratosis; soft, velvety skin on the palms and soles; and abnormal wound healing.  Individuals with collagen VI-related myopathy often have signs and symptoms of multiple forms of this condition, so it can be difficult to assign a specific diagnosis. The overlap in disease features, in addition to their common cause, is why these once separate conditions are now considered part of the same disease spectrum.
Question: What are the symptoms of Ablepharon macrostomia syndrome ?

Answer: What are the signs and symptoms of Ablepharon macrostomia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ablepharon macrostomia 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) Abnormal hair quantity 90% Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Cutis laxa 90% Fine hair 90% Hypoplasia of the zygomatic bone 90% Neurological speech impairment 90% Underdeveloped nasal alae 90% Wide mouth 90% Abnormality of female external genitalia 50% Anteverted nares 50% Aplasia/Hypoplasia of the nipples 50% Breast aplasia 50% Camptodactyly of finger 50% Cognitive impairment 50% Cryptorchidism 50% Dry skin 50% Hearing impairment 50% Hypoplasia of penis 50% Microdontia 50% Myopia 50% Opacification of the corneal stroma 50% Thin skin 50% Umbilical hernia 50% Visual impairment 50% Abnormality of skin pigmentation 7.5% Atresia of the external auditory canal 7.5% Corneal erosion 7.5% Depressed nasal bridge 7.5% Omphalocele 7.5% Thin vermilion border 7.5% Toe syndactyly 7.5% Short upper lip 5% Talipes equinovarus 5% Ablepharon - Abnormal nasal morphology - Absent eyebrow - Absent eyelashes - Autosomal recessive inheritance - Cryptophthalmos - Delayed speech and language development - Hypertelorism - Microtia, third degree - Ventral hernia - 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.