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[User] What are the symptoms of Vici syndrome ?

[Assistant] What are the signs and symptoms of Vici syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Vici 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 retinal pigmentation 90% Aplasia/Hypoplasia of the corpus callosum 90% Cellular immunodeficiency 90% Cognitive impairment 90% EEG abnormality 90% Generalized hypopigmentation 90% Hypertrophic cardiomyopathy 90% Hypopigmentation of hair 90% Muscular hypotonia 90% Recurrent respiratory infections 90% Short stature 90% Abnormality of neuronal migration 50% Abnormality of the palate 50% Abnormality of the renal tubule 50% Aplasia/Hypoplasia of the cerebellum 50% Cataract 50% Nystagmus 50% Optic atrophy 50% Seizures 50% Abnormality of the macula 7.5% Cerebral cortical atrophy 7.5% Hypertelorism 7.5% Hypotelorism 7.5% Limitation of joint mobility 7.5% Sensorineural hearing impairment 7.5% Sleep disturbance 7.5% Abnormal posturing - Abnormality of the thymus - Acidosis - Agenesis of corpus callosum - Albinism - Autosomal recessive inheritance - Cerebellar vermis hypoplasia - Chronic mucocutaneous candidiasis - Cleft palate - Cleft upper lip - Congenital cataract - Congenital onset - Congestive heart failure - Cutaneous anergy - Decreased number of CD4+ T cells - Decreased T cell activation - Dilated cardiomyopathy - Failure to thrive - Growth delay - Hypopigmentation of the fundus - IgG deficiency - Immunoglobulin IgG2 deficiency - Left ventricular hypertrophy - Low-set ears - Microcephaly - Motor delay - Myopathy - Ocular albinism - Penile hypospadias - Recurrent bacterial infections - Recurrent fungal infections - Recurrent viral infections - Schizencephaly - White matter neuronal heterotopia - 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.


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[User] What is (are) sudden infant death with dysgenesis of the testes syndrome ?

[Assistant] Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems.  Infants with SIDDT who are genetically male, with one X chromosome and one Y chromosome in each cell, have underdeveloped or abnormal testes. They may also have external genitalia that appear female or that do not look clearly male or clearly female (ambiguous genitalia). In affected infants who are genetically female, with two X chromosomes in each cell, development of the internal and external reproductive organs is normal.  SIDDT is associated with abnormal development of the brain, particularly the brainstem, which is the part of the brain that is connected to the spinal cord. The brainstem regulates many basic body functions, including heart rate, breathing, eating, and sleeping. It also relays information about movement and the senses between the brain and the rest of the body. Many features of SIDDT appear to be related to brainstem malfunction, including a slow or uneven heart rate, abnormal breathing patterns, difficulty controlling body temperature, unusual tongue and eye movements, abnormal reflexes, seizures, and feeding difficulties. Affected infants also have an unusual cry that has been described as similar to the bleating of a goat, which is probably a result of abnormal nerve connections between the brain and the voicebox (larynx).  The brainstem abnormalities lead to death in the first year of life, when affected infants suddenly stop breathing or their heart stops beating (cardiorespiratory arrest).


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[User] What is (are) Diabetes, Heart Disease, and Stroke ?

[Assistant]
Metabolic syndrome is a grouping of traits and medical conditions that puts people at risk for both heart disease and type 2 diabetes. It is defined by the National Cholesterol Education Program as having any three of the following five traits and medical conditions:

Traits and Medical Conditions    Definition        Elevated waist circumference    Waist measurement of          - 40 inches or more in men      - 35 inches or more in women             Elevated levels of triglycerides             - 150 mg/dL or higher or Taking medication for elevated triglyceride levels             Low levels of HDL (good) cholesterol             - Below 40 mg/dL in men      - Below 50 mg/dL in women or Taking medication for low HDL cholesterol levels            Elevated blood pressure levels             - 130 mm Hg or higher for systolic blood pressure or      - 85 mm Hg or higher for diastolic blood pressure  or Taking medication for elevated blood pressure levels            Elevated fasting blood glucose levels             - 100 mg/dL or higher or Taking medication for elevated blood glucose levels


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[User] What are the symptoms of Dandy-Walker malformation with postaxial polydactyly ?

[Assistant] What are the signs and symptoms of Dandy-Walker malformation with postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with postaxial polydactyly. 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) Dandy-Walker malformation 90% Postaxial hand polydactyly 90% Agenesis of cerebellar vermis - Aortic valve stenosis - Autosomal recessive inheritance - Chorioretinal atrophy - Cranial nerve paralysis - Depressed nasal bridge - Dilated fourth ventricle - Dolichocephaly - Elevated imprint of the transverse sinuses - Frontal bossing - Hydrocephalus - Low-set ears - Macrocephaly - Microretrognathia - Nystagmus - Partial absence of cerebellar vermis - Patent ductus arteriosus - Posterior embryotoxon - Posterior fossa cyst at the fourth ventricle - Small palpebral fissure - Thinning and bulging of the posterior fossa bones - Truncal ataxia - Wide nasal bridge - 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.


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[User] How many people are affected by cytochrome c oxidase deficiency ?

[Assistant] In Eastern Europe, cytochrome c oxidase deficiency is estimated to occur in 1 in 35,000 individuals. The prevalence of this condition outside this region is unknown.


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[User] What are the symptoms of Microcephaly cervical spine fusion anomalies ?

[Assistant] What are the signs and symptoms of Microcephaly cervical spine fusion anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly cervical spine fusion anomalies. 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 ribs 90% Cognitive impairment 90% Convex nasal ridge 90% Hyperlordosis 90% Hypoplasia of the zygomatic bone 90% Kyphosis 90% Low-set, posteriorly rotated ears 90% Malar prominence 90% Microcephaly 90% Pectus excavatum 90% Proptosis 90% Short stature 90% Sloping forehead 90% Vertebral segmentation defect 90% Abnormality of dental morphology 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the ureter 50% Displacement of the external urethral meatus 50% Hyperreflexia 50% Neurological speech impairment 50% Ptosis 50% Short neck 50% Autosomal recessive inheritance - Intellectual disability - Spinal cord compression - Spinal instability - Vertebral fusion - 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.


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[User] What is (are) Essential Thrombocythemia ?

[Assistant]
Key Points
                    - Essential thrombocythemia is a disease in which too many platelets are made in the bone marrow.    - Patients with essential thrombocythemia may have no signs or symptoms.    - Certain factors affect prognosis (chance of recovery) and treatment options for essential thrombocythemia.

                    Essential thrombocythemia is a disease in which too many platelets are made in the bone marrow.
                    Essential thrombocythemia causes an abnormal increase in the number of platelets made in the blood and bone marrow.


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[User] What are the symptoms of Subaortic stenosis short stature syndrome ?

[Assistant] What are the signs and symptoms of Subaortic stenosis short stature syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Subaortic stenosis short stature 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 aorta 90% Abnormality of the voice 90% Anteverted nares 90% Arrhythmia 90% Short stature 90% Hernia of the abdominal wall 50% Kyphosis 50% Obesity 50% Respiratory insufficiency 50% Scoliosis 50% Abnormality of lipid metabolism 7.5% Acne 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Biliary tract abnormality 7.5% Cognitive impairment 7.5% Epicanthus 7.5% Low-set, posteriorly rotated ears 7.5% Microdontia 7.5% Nystagmus 7.5% Short neck 7.5% Single transverse palmar crease 7.5% Synostosis of carpal bones 7.5% Type II diabetes mellitus 7.5% Autosomal recessive inheritance - Barrel-shaped chest - Broad finger - Broad toe - Diastema - Flat face - Glaucoma - Growth delay - Hypoplasia of midface - Hypoplasia of the maxilla - Intellectual disability - Low-set ears - Malar flattening - Membranous subvalvular aortic stenosis - Microcornea - Microphthalmia - Narrow mouth - Opacification of the corneal stroma - Pectus excavatum - Round face - Shield chest - Short foot - Short nose - Short palm - Short phalanx of finger - Short toe - Short upper lip - Small hand - Strabismus - Subaortic stenosis - Wide intermamillary distance - Wide nasal bridge - 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.


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[User] What is (are) nemaline myopathy ?

[Assistant] Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur.  Nemaline myopathy is divided into six types. In order of decreasing severity, the types are: severe congenital, Amish, intermediate congenital, typical congenital, childhood-onset, and adult-onset. The types are distinguished by the age when symptoms first appear and the severity of symptoms; however, there is overlap among the various types. The severe congenital type is the most life-threatening. Most individuals with this type do not survive past early childhood due to respiratory failure. The Amish type solely affects the Old Order Amish population of Pennsylvania and is typically fatal in early childhood. The most common type of nemaline myopathy is the typical congenital type, which is characterized by muscle weakness and feeding problems beginning in infancy. Most of these individuals do not have severe breathing problems and can walk unassisted. People with the childhood-onset type usually develop muscle weakness in adolescence. The adult-onset type is the mildest of all the various types. People with this type usually develop muscle weakness between ages 20 and 50.


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[User] What is (are) Familial hypertrophic cardiomyopathy ?

[Assistant] Familial hypertrophic cardiomyopathy (HCM) is an inherited heart condition characterized by thickening of the heart muscle. The thickening most often occurs in the muscle wall that separates the left and right ventricles from each other (interventricular septum). This may restrict the flow of oxygen-rich blood from the heart, or it may lead to less efficient pumping of blood. Signs and symptoms can vary. While some people have no symptoms, others may have chest pain, shortness of breath, palpitations, lightheadedness, dizziness, and/or fainting. Even in the absence of symptoms, familial HCM can have serious consequences such as life-threatening arrhythmias, heart failure, and an increased risk of sudden death. Familial HCM may be caused by mutations in any of several genes and is typically inherited in an autosomal dominant manner. Treatment may depend on severity of symptoms and may include medications, surgical procedures, and/or an implantable cardioverter-defibrillator (ICD).


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[User] What is (are) juvenile myoclonic epilepsy ?

[Assistant] Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, stress, or alcohol consumption.


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[User] What are the symptoms of Hypochromic microcytic anemia with iron overload ?

[Assistant] What are the signs and symptoms of Hypochromic microcytic anemia with iron overload? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochromic microcytic anemia with iron overload. 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 metabolism/homeostasis - Abnormality of the liver - Anemia - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] Who is at risk for Pyelonephritis: Kidney Infection? ?

[Assistant] People most at risk for pyelonephritis are those who have a bladder infection and those with a structural, or anatomic, problem in the urinary tract. Urine normally flows only in one directionfrom the kidneys to the bladder. However, the flow of urine may be blocked in people with a structural defect of the urinary tract, a kidney stone, or an enlarged prostatethe walnut-shaped gland in men that surrounds the urethra at the neck of the bladder and supplies fluid that goes into semen. Urine can also back up, or reflux, into one or both kidneys. This problem, which is called vesicoureteral reflux (VUR), happens when the valve mechanism that normally prevents backward flow of urine is not working properly. VUR is most commonly diagnosed during childhood. Pregnant women and people with diabetes or a weakened immune system are also at increased risk of pyelonephritis.


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[User] What are the treatments for Horner syndrome ?

[Assistant] These resources address the diagnosis or management of Horner syndrome:  - Genetic Testing Registry: Horner syndrome, congenital   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] Do you have information about Tonsils and Adenoids

[Assistant] Summary : Your tonsils and adenoids are part of your lymphatic system. Your tonsils are in the back of your throat. Your adenoids are higher up, behind your nose. Both help protect you from infection by trapping germs coming in through your mouth and nose.    Sometimes your tonsils and adenoids become infected. Tonsillitis makes your tonsils sore and swollen and causes a sore throat. Enlarged adenoids can be sore, make it hard to breathe and cause ear problems.    The first treatment for infected tonsils and adenoids is antibiotics. If you have frequent infections or trouble breathing, you may need surgery. Surgery to remove the tonsils is tonsillectomy. Surgery to remove adenoids is adenoidectomy.


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[User] What is (are) Osteogenesis Imperfecta ?

[Assistant] Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI is caused by one of several genes that aren't working properly. When these genes don't work, it affects how you make collagen, a protein that helps make bones strong.     OI can range from mild to severe, and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime.    No single test can identify OI. Your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. Your doctor may also test your collagen (from skin) or genes (from blood). There is no cure, but you can manage symptoms. Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces, and surgery.     NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases


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[User] Who is at risk for Prolactinoma? ?

[Assistant] Women whose ovaries produce inadequate estrogen are at increased risk for osteoporosis. Hyperprolactinemia can reduce estrogen production. Although estrogen production may be restored after treatment for hyperprolactinemia, even a year or 2 without estrogen can compromise bone strength. Women should protect themselves from osteoporosis by increasing exercise and calcium intake through diet or supplements and by not smoking. Women treated for hyperprolactinemia may want to have periodic bone density measurements and discuss estrogen replacement therapy or other bone-strengthening medications with their doctor.


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[User] What are the symptoms of Giant platelet syndrome ?

[Assistant] What are the signs and symptoms of Giant platelet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant platelet 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 bleeding - Abnormality of the abdomen - Autosomal recessive inheritance - Epistaxis - Increased mean platelet volume - Menorrhagia - Prolonged bleeding time - Purpura - Thrombocytopenia - 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.


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[User] How many people are affected by lacrimo-auriculo-dento-digital syndrome ?

[Assistant] LADD syndrome appears to be a rare condition; at least 60 cases have been described in the scientific literature.


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[User] What are the symptoms of Mitochondrial complex II deficiency ?

[Assistant] What are the signs and symptoms of Mitochondrial complex II deficiency? The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Many factors affect symptom and symptom severity, including what gene mutation is involved. Many genes must work together to ensure that the enzyme, complex II (succinate dehydrogenase), can perform its job normally in the body. Changes in the SDHA, SDHB, SDHC, SDHD, SDHAF1, or SDHAF2 genes can all potentially cause complex II deficiency. Much of what we know today about the signs and symptoms of complex II deficiency are based on articles which describe individual patients. Due to the rarity of this condition and the complexity of its cause, it is very difficult to predict how a person will be affected. We strongly recommend that you work with your or your childs healthcare provider to learn more about how the deficiency is affecting your or your childs health. In the meantime, we have summarized symptoms of complex II deficiency which have been described in case reports: Inheriting two SDHA gene mutations has caused myoclonic seizures and Leighs syndrome. Leigh syndrome is a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. A small number of people develop symptoms in adulthood or have symptoms that worsen more slowly. The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing (dysphagia) that leads to eating problems. Click here to visit Genetics Home Reference and learn more about Leigh syndrome. Inheriting two SDHB gene mutations can cause leukodystrophy. Leukodystrophies affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body. This leads to problems with movement, speaking, vision, hearing, and mental and physical development. Most of the leukodystrophies appear during infancy or childhood. They can be hard to detect early because children seem healthy at first. However, symptoms gradually get worse over time.  Click here to visit MedlinePlus.gov and learn more about leukodystprohy. Inheriting two SDHAF1 gene mutations can cause severe progressive leukoencephalopathy beginning in infancy. Leukoencephalopathy refers to the degeneration of the white matter of the brain.  It is usually diagnosed by MRI. It causes cognitive impairment, increased muscle tone, and hyperactive reflexes. Inheriting two SDHD gene mutations can cause progressive loss of mental and movement abilities (psychomotor retardation), and seizures. Signs and symptoms may begin in infancy and progress through childhood. Complex II deficiency has also been described in association with dilated cardiomyopathy (and heart failure in childhood), hemolytic uremic syndrome and rhabdomyolysis, congenital dislocation of the hip joint, progressive encephalomyopathy (a disorder affecting the brain and skeletal muscle, usually causing weakness) with dementia, and KearnsSayre syndrome. Case reports have also demonstrated that people who have only a single mutation in one of these genes may also be at risk for health problems: Having one SDHA gene mutation caused optic atrophy, ataxia, proximal myopathy in adulthood. Having one mutation in the SDHA, SDHB, SDHC, SDHAF2, or SDHD gene can cause an increased risk for paragangliomas and/or pheochromocytomas. The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial complex II deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal mitochondria in muscle tissue - Ataxia - Autosomal recessive inheritance - Babinski sign - Cognitive impairment - Decreased activity of mitochondrial complex II - Developmental regression - Dilated cardiomyopathy - Dystonia - Exercise intolerance - Flexion contracture - Hyperreflexia - Hypertrophic cardiomyopathy - Increased intramyocellular lipid droplets - Increased serum lactate - Infantile onset - Leukoencephalopathy - Muscle weakness - Myoclonus - Neonatal hypotonia - Nystagmus - Ophthalmoplegia - Optic atrophy - Phenotypic variability - Pigmentary retinopathy - Progressive leukoencephalopathy - Ptosis - Ragged-red muscle fibers - Seizures - Short stature - Spasticity - Stress/infection-induced lactic acidosis - 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.


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[User] How to diagnose Rheumatoid Arthritis ?

[Assistant] There is no single, definitive test for rheumatoid arthritis. Common tests for rheumatoid arthritis include - The rheumatoid factor test. Rheumatoid factor is an antibody that is present eventually in the blood of most people with rheumatoid arthritis. However, not all people with rheumatoid arthritis test positive for rheumatoid factor, especially early in the disease. Also, some people who do test positive never develop the disease.  The rheumatoid factor test. Rheumatoid factor is an antibody that is present eventually in the blood of most people with rheumatoid arthritis. However, not all people with rheumatoid arthritis test positive for rheumatoid factor, especially early in the disease. Also, some people who do test positive never develop the disease. - The citrulline antibody test. This blood test detects antibodies to cyclic citrullinated peptide (anti-CCP). This test is positive in most people with rheumatoid arthritis and can even be positive years before rheumatoid arthritis symptoms develop. When used with the rheumatoid factor test, the citrulline antibody test results are very useful in confirming a rheumatoid arthritis diagnosis.  The citrulline antibody test. This blood test detects antibodies to cyclic citrullinated peptide (anti-CCP). This test is positive in most people with rheumatoid arthritis and can even be positive years before rheumatoid arthritis symptoms develop. When used with the rheumatoid factor test, the citrulline antibody test results are very useful in confirming a rheumatoid arthritis diagnosis. Other common tests for rheumatoid arthritis include - the erythrocyte sedimentation rate, which indicates the presence of inflammation in the body   - a test for white blood cell count   - a blood test for anemia.  the erythrocyte sedimentation rate, which indicates the presence of inflammation in the body a test for white blood cell count a blood test for anemia. X-rays are often used to determine the degree of joint destruction. They are not useful in the early stages of rheumatoid arthritis before bone damage is evident, but they can be used later to monitor the progression of the disease. Learn more about how rheumatoid arthritis is diagnosed.


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[User] Is tubular aggregate myopathy inherited ?

[Assistant] Most cases of tubular aggregate myopathy, including those caused by STIM1 gene mutations, are inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the mutation is passed through generations in a family. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.  Rarely, tubular aggregate myopathy is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Researchers are still working to determine which gene or genes are associated with autosomal recessive tubular aggregate myopathy.


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[User] What are the treatments for Myoepithelial carcinoma ?

[Assistant] How might myoepithelial carcinoma be treated? The treatment for metastatic myoepithelial carcinoma usually begins with surgery to remove the main tumor.  Radiation therapy can be used to reduce the chance that the tumor could return in the same location.  Recent studies have shown that neutron-based radiation therapy may be more effective than proton-based radiation therapy for treating myoepithelial cancers. There is limited evidence about the usefulness of chemotherapy in treating metastatic myoepithelial cancer, and there are no standard treatment guidelines.  However, there are three reports of individuals with metastatic myoepithelial cancer who responded to chemotherapy.  In one individual, the metastatic tumors stopped growing during chemotherapy.  In the other two individuals, there was no evidence of the metastatic tumors after 14 months for one person and after three years for the other person.


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[User] What are the genetic changes related to fucosidosis ?

[Assistant] Mutations in the FUCA1 gene cause fucosidosis. The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. This enzyme plays a role in the breakdown of complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) and fats (glycolipids). Alpha-L-fucosidase is responsible for cutting (cleaving) off a sugar molecule called fucose toward the end of the breakdown process.  FUCA1 gene mutations severely reduce or eliminate the activity of the alpha-L-fucosidase enzyme. A lack of enzyme activity results in an incomplete breakdown of glycolipids and glycoproteins. These partially broken down compounds gradually accumulate within various cells and tissues throughout the body and cause cells to malfunction. Brain cells are particularly sensitive to the buildup of glycolipids and glycoproteins, which can result in cell death. Loss of brain cells is thought to cause the neurological symptoms of fucosidosis. Accumulation of glycolipids and glycoproteins also occurs in other organs such as the liver, spleen, skin, heart, pancreas, and kidneys, contributing to the additional symptoms of fucosidosis.


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[User] What is (are) Dry Eye ?

[Assistant] National Eye Institute  National Institutes of Health  2020 Vision Place  Bethesda, MD 20892-3655  301-496-5248  E-mail: 2020@nei.nih.gov  www.nei.nih.gov


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[User] What are the symptoms of Human T-cell leukemia virus type 1 ?

[Assistant] What are the signs and symptoms of human T-cell leukemia virus, type 1? Human T-cell leukemia virus, type 1 (HTLV-1) generally causes no signs or symptoms. However, some affected people may later develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or other medical conditions. Approximately 2-5% of people with HTLV-1 will develop ATL, a cancer of the T-cells (a type of white blood cell). The signs and symptoms of this condition and the disease progression vary from person to person. Affected people may have the following features: Fatigue Lymphadenopathy (swollen lymph nodes) Thirst Nausea and vomiting Fever Skin and bone abnormalities Enlarged liver and/or spleen Frequent infections Roughly .25-2% of people with HTLV-1 will develop HAM/TSP, a chronic, progressive disease of the nervous system. Signs and symptoms of this condition vary but may include: Progressive weakness Stiff muscles Muscle spasms Backache 'Weak' bladder Constipation


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[User] What to do for Renal Tubular Acidosis ?

[Assistant] - Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic.  - Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly total kidney failure.  - If RTA is suspected, additional information about the sodium, potassium, and chloride levels in the urine and the potassium level in the blood will help identify which type of RTA a person has.  - In all cases, the first goal of therapy is to neutralize acid in the blood, but different treatments may be needed to address the different underlying causes of acidosis.


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[User] What is (are) Infantile Spasms ?

[Assistant] An infantile spasm (IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). The onset of infantile spasms is usually in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other seizure types. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to spasms, making it important to identify the underlying cause. In some children, no cause can be found.


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[User] What are the treatments for Peutz-Jeghers syndrome ?

[Assistant] These resources address the diagnosis or management of Peutz-Jeghers syndrome:  - Gene Review: Gene Review: Peutz-Jeghers Syndrome  - Genetic Testing Registry: Peutz-Jeghers syndrome  - MedlinePlus Encyclopedia: Peutz-Jeghers Syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] How to diagnose Muir-Torre syndrome ?

[Assistant] How is Muir-Torre syndrome diagnosed? A person is suspected to have Muir-Torre syndrome (MTS)if he/she has one or more of the following: History of one or more sebaceous tumors Age younger than 60 years at first presentation of sebaceous tumors Personal history of Lynch-related cancers Family history of Lynch-related cancers The presence of specific skin tumors in MTS may lead to the correct diagnosis even in the absence of a clear family history. A person diagnosed with MTS can also have genetic testing to see if they have a mutation in one of the genes known to cause MTS. However, not everyone with Muir-Torre syndrome will have a detectable mutation in one of these genes. Other, unidentified genes may also play a role in the development of the condition.


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[User] What are the genetic changes related to juvenile primary lateral sclerosis ?

[Assistant] Mutations in the ALS2 gene cause most cases of juvenile primary lateral sclerosis. This gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. As a result, alsin is unstable and is quickly broken down, or it cannot function properly. It is unclear how the loss of functional alsin protein damages motor neurons and causes juvenile primary lateral sclerosis.


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[User] Is Chorea-acanthocytosis inherited ?

[Assistant] How do people inherit chorea-acanthocytosis? Chorea-acanthocytosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


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[User] What is (are) PPM-X syndrome ?

[Assistant] PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability. Other symptoms include increased muscle tone and exaggerated reflexes. Affected males may have enlarged testes (macro-orchidism). Not all affected individuals have all these symptoms, but most have intellectual disability. Males with this condition are typically more severely affected than females, who usually have only mild intellectual disability.


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[User] What are the treatments for cutis laxa ?

[Assistant] These resources address the diagnosis or management of cutis laxa:  - Gene Review: Gene Review: ATP6V0A2-Related Cutis Laxa  - Gene Review: Gene Review: ATP7A-Related Copper Transport Disorders  - Gene Review: Gene Review: EFEMP2-Related Cutis Laxa  - Gene Review: Gene Review: FBLN5-Related Cutis Laxa  - Genetic Testing Registry: Autosomal recessive cutis laxa type IA  - Genetic Testing Registry: Cutis laxa with osteodystrophy  - Genetic Testing Registry: Cutis laxa, X-linked  - Genetic Testing Registry: Cutis laxa, autosomal dominant  - MedlinePlus Encyclopedia: Colon Diverticula (image)  - MedlinePlus Encyclopedia: Emphysema (image)  - MedlinePlus Encyclopedia: Hernia   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What is (are) Hypochondroplasia ?

[Assistant] Hypochondroplasia is a form dwarfism that affects the conversion of cartilage into bone, particularly in the long bones of the arms and legs. Hypochondroplasia is similar to achondroplasia, but the features tend to be milder. People with this condtion usually have short arms and legs and broad, short hands and feet. Other features include a large head, limited range of motion in the elbows, lordosis, and bowed legs. Hypochondroplasia is caused by mutations in the FGFR3 gene and is inherited in an autosomal dominant fashion.


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[User] Who is at risk for Parasites - Echinococcosis? ?

[Assistant]
Cystic echinococcosis (CE) is caused by infection with the larval stage of Echinococcus granulosus. CE is found in Africa, Europe, Asia, the Middle East, Central and South America, and in rare cases, North America. The parasite is transmitted to dogs when they ingest the organs of other animals that contain hydatid cysts. The cysts develop into adult tapeworms in the dog. Infected dogs shed tapeworm eggs in their feces which contaminate the ground. Sheep, cattle, goats, and pigs ingest tapeworm eggs in the contaminated ground; once ingested, the eggs hatch and develop into cysts in the internal organs. The most common mode of transmission to humans is by the accidental consumption of soil, water, or food that has been contaminated by the fecal matter of an infected dog. Echinococcus eggs that have been deposited in soil can stay viable for up to a year. The disease is most commonly found in people involved in raising sheep, as a result of the sheep's role as an intermediate host of the parasite and the presence of working dogs that are allowed to eat the offal of infected sheep.

Alveolar echinococcosis (AE) is caused by infection with the larval stage of Echinococcus multilocularis. AE is found across the globe and is especially prevalent in the northern latitudes of Europe, Asia, and North America. The adult tapeworm is normally found in foxes, coyotes, and dogs. Infection with the larval stages is transmitted to people through ingestion of food or water contaminated with tapeworm eggs.


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[User] what research (or clinical trials) is being done for Spinal Cord Infarction ?

[Assistant] NINDS conducts and supports research on disorders of the spinal cord such as spinal cord infarction, aimed at learning more about these disorders and finding ways to prevent and treat them.


[System] The assistant is a factual and informative medical chatbot.

[User] How to diagnose Hypokalemic periodic paralysis ?

[Assistant] How is hypokalemic periodic paralysis diagnosed? The diagnosis of hypokalemic periodic paralysis is based on a history of episodes of paralysis and low levels of potassium in the blood during attacks (less than 0.9 to 3.0 mmol/L), but not between attacks. An important part of the diagnosis is to rule out other potential causes, including myotonia, hyperthyroidism, and arrhythmia. Affected individuals typically have a family history consistent with autosomal dominant inheritance. Genetic testing is available for hypokalemic periodic paralysis. Of all individuals meeting diagnostic criteria for this condition, approximately 55 to 70 percent have mutations in the CACNA1S gene, and approximately 8 to 10 percent have mutations in the SCN4A gene. GeneTests lists the names of laboratories that perform clinical genetic testing of the CACNA1S and SCN4A genes for hypokalemic periodic paralysis. When a disease-causing mutation is identified in an affected individual, genetic testing can be performed for at-risk, asymptomatic family members. Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  See below for a list of online resources that can assist you in locating a genetics professional near you.


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[User] What is (are) Blue cone monochromatism ?

[Assistant] Blue cone monochromatism is an inherited X-linked vision disorder. In this condition both red and green cone sensitivities are absent, however rod function and blue cone sensitivities are present. Signs and symptoms include severely reduced visual acuity (clearnes), eccentric fixation, infantile nystagmus that decreases with age, no obvious retinal abnormalities, and poor or no color discrimination.


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[User] How many people are affected by juvenile hyaline fibromatosis ?

[Assistant] The prevalence of juvenile hyaline fibromatosis is unknown. About 70 people with this disorder have been reported.


[System] The assistant is a factual and informative medical chatbot.

[User] How many people are affected by Prostate Enlargement: Benign Prostatic Hyperplasia ?

[Assistant] Benign prostatic hyperplasia is the most common prostate problem for men older than age 50. In 2010, as many as 14 million men in the United States had lower urinary tract symptoms suggestive of benign prostatic hyperplasia.1 Although benign prostatic hyperplasia rarely causes symptoms before age 40, the occurrence and symptoms increase with age. Benign prostatic hyperplasia affects about 50 percent of men between the ages of 51 and 60 and up to 90 percent of men older than 80.2


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[User] What is the outlook for Brown-Sequard Syndrome ?

[Assistant] The prognosis for individuals with BSS varies depending on the cause of the disorder.


[System] The assistant is a factual and informative medical chatbot.

[User] How to diagnose Buschke Ollendorff syndrome ?

[Assistant] Is genetic testing available for Buschke Ollendorff syndrome? Yes. GeneTests lists the names of laboratories that are performing genetic testing for Buschke Ollendorff syndrome. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.


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[User] What is (are) Abetalipoproteinemia ?

[Assistant] Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. Signs and symptoms appear in the first few months of life and can include failure to thrive; diarrhea; acanthocytosis; and stool abnormalities. Other features develop later in childhood and often impair the function of the nervous system, potentially causing slower intellectual development; poor muscle coordination; progressive ataxia; and an eye disorder called retinitis pigmentosa. Most of the symptoms are due to defects in the absorption and transport of vitamin E. Abetalipoproteinemia is caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner. Early diagnosis, high-dose vitamin E therapy, and medium-chain fatty acid supplements may slow the progression of the nervous system abnormalities. Long-term outlook is reasonably good for most affected people who are diagnosed early. If left untreated, the condition can result in early death.


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[User] What is (are) distal myopathy 2 ?

[Assistant] Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles.  Muscle weakness in the ankles is usually the first symptom of distal myopathy 2. The weakness can also affect muscles in the hands, wrists, and shoulders. At first, the muscle weakness may be on only one side of the body, but both sides are eventually involved. This muscle weakness can slowly worsen and make actions like walking and lifting the fingers difficult.  Another characteristic feature of distal myopathy 2 is weakness of the vocal cords and throat. This weakness initially causes the voice to sound weak or breathy (hypophonic). Eventually, the voice becomes gurgling, hoarse, and nasal. The weakness can also cause difficulty swallowing (dysphagia).


[System] The assistant is a factual and informative medical chatbot.

[User] How many people are affected by myasthenia gravis ?

[Assistant] Myasthenia gravis affects about 20 per 100,000 people worldwide. The prevalence has been increasing in recent decades, which likely results from earlier diagnosis and better treatments leading to longer lifespans for affected individuals.


[System] The assistant is a factual and informative medical chatbot.

[User] What causes Childhood Extracranial Germ Cell Tumors ?

[Assistant] The cause of most childhood extracranial germ cell tumors is unknown.


[System] The assistant is a factual and informative medical chatbot.

[User] What is (are) Bronchitis ?

[Assistant]
Espaol

Bronchitis (bron-KI-tis) is a condition in which the bronchial tubes become inflamed. These tubes carry air to your lungs. (For more information about the bronchial tubes and airways, go to the Diseases and Conditions Index How the Lungs Work article.)

People who have bronchitis often have a cough that brings up mucus. Mucus is a slimy substance made by the lining of the bronchial tubes. Bronchitis also may cause wheezing (a whistling or squeaky sound when you breathe), chest pain or discomfort, a low fever, and shortness of breath.

Bronchitis

Overview

The two main types of bronchitis are acute (short term) and chronic (ongoing).

Acute Bronchitis

Infections or lung irritants cause acute bronchitis. The same viruses that cause colds and the flu are the most common cause of acute bronchitis. These viruses are spread through the air when people cough. They also are spread through physical contact (for example, on hands that have not been washed).

Sometimes bacteria cause acute bronchitis.

Acute bronchitis lasts from a few days to 10 days. However, coughing may last for several weeks after the infection is gone.

Several factors increase your risk for acute bronchitis. Examples include exposure to tobacco smoke (including secondhand smoke), dust, fumes, vapors, and air pollution. Avoiding these lung irritants as much as possible can help lower your risk for acute bronchitis.

Most cases of acute bronchitis go away within a few days. If you think you have acute bronchitis, see your doctor. He or she will want to rule out other, more serious health conditions that require medical care.

Chronic Bronchitis

Chronic bronchitis is an ongoing, serious condition. It occurs if the lining of the bronchial tubes is constantly irritated and inflamed, causing a long-term cough with mucus. Smoking is the main cause of chronic bronchitis.

Viruses or bacteria can easily infect the irritated bronchial tubes. If this happens, the condition worsens and lasts longer. As a result, people who have chronic bronchitis have periods when symptoms get much worse than usual.

Chronic bronchitis is a serious, long-term medical condition. Early diagnosis and treatment, combined with quitting smoking and avoiding secondhand smoke, can improve quality of life. The chance of complete recovery is low for people who have severe chronic bronchitis.


[System] The assistant is a factual and informative medical chatbot.

[User] How many people are affected by neutral lipid storage disease with myopathy ?

[Assistant] Neutral lipid storage disease with myopathy is a rare condition; its incidence is unknown.


[System] The assistant is a factual and informative medical chatbot.

[User] What are the treatments for phosphoglycerate mutase deficiency ?

[Assistant] These resources address the diagnosis or management of phosphoglycerate mutase deficiency:  - Genetic Testing Registry: Glycogen storage disease type X   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


[System] The assistant is a factual and informative medical chatbot.

[User] How to prevent Diarrhea ?

[Assistant]
Two types of diarrhea can be preventedrotavirus diarrhea and travelers diarrhea.

Rotavirus Diarrhea

Two oral vaccines have been approved by the U.S. Food and Drug Administration to protect children from rotavirus infections: rotavirus vaccine, live, oral, pentavalent (RotaTeq); and rotavirus vaccine, live, oral (Rotarix). RotaTeq is given to infants in three doses at 2, 4, and 6 months of age. Rotarix is given in two doses. The first dose is given when infants are 6 weeks old, and the second is given at least 4 weeks later but before infants are 24 weeks old.

Parents of infants should discuss rotavirus vaccination with a health care provider. For more information, parents can visit the Centers for Disease Control and Prevention rotavirus vaccination webpage at www.cdc.gov/vaccines/vpd-vac/rotavirus.

Travelers Diarrhea

To prevent travelers diarrhea, people traveling from the United States to developing countries should avoid

- drinking tap water, using tap water to brush their teeth, or using ice made from tap water  - drinking unpasteurized milk or milk products  - eating raw fruits and vegetables, including lettuce and fruit salads, unless they peel the fruits or vegetables themselves  - eating raw or rare meat and fish  - eating meat or shellfish that is not hot when served  - eating food from street vendors

Travelers can drink bottled water, soft drinks, and hot drinks such as coffee or tea.

People concerned about travelers diarrhea should talk with a health care provider before traveling. The health care provider may recommend that travelers bring medicine with them in case they develop diarrhea during their trip. Health care providers may advise some peopleespecially people with weakened immune systemsto take antibiotics before and during a trip to help prevent travelers diarrhea. Early treatment with antibiotics can shorten a bout of travelers diarrhea.


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[User] What are the treatments for familial osteochondritis dissecans ?

[Assistant] These resources address the diagnosis or management of familial osteochondritis dissecans:  - Cedars-Sinai  - Genetic Testing Registry: Osteochondritis dissecans  - Seattle Children's: Osteochondritis Dissecans Symptoms and Diagnosis   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


[System] The assistant is a factual and informative medical chatbot.

[User] What are the symptoms of Congenital deafness with vitiligo and achalasia ?

[Assistant] What are the signs and symptoms of Congenital deafness with vitiligo and achalasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital deafness with vitiligo and 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) EEG abnormality 90% Hypopigmented skin patches 90% Sensorineural hearing impairment 90% Short stature 90% Skeletal muscle atrophy 90% Achalasia - Autosomal recessive inheritance - Hearing impairment - Vitiligo - 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.


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[User] What causes Cramp-fasciculation syndrome ?

[Assistant] What causes cramp-fasciculation syndrome? In many cases, the exact underlying cause of cramp-fasciculation syndrome (CFS) is unknown (idiopathic). In general, it is thought to be related to abnormal excitability (overactivity) of peripheral neurons. Some cases of CFS are associated with: Genetic disorders Autoimmune conditions Peripheral neuropathy Anterior-horn-cell disease Metabolic abnormalities


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[User] Who is at risk for Lujo Hemorrhagic Fever (LUHF)? ?

[Assistant]
Lujo hemorrhagic fever (LUHF) occurs in southern Africa. The initial case was certainly infected in Zambia.
   Field workers

Field workers are at greatest risk because of increased human contact with the reservoir rodent population. Sexual partners of field workers may be at greater risk as well. In addition to nosocomial infection in healthcare workers already described, laboratory infections have been frequently described with Arenaviruses and Lujo virus can certainly be transmitted to laboratory workers during manipulation of the virus, especially during experimental infections of rodents.


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[User] What are the treatments for X-linked intellectual disability, Siderius type ?

[Assistant] These resources address the diagnosis or management of X-linked intellectual disability, Siderius type:  - Cincinnati Children's Hospital: Cleft Lip / Cleft Palate Bottle Feeding  - Cleveland Clinic: Cleft Lip & Palate Surgery  - Genetic Testing Registry: Siderius X-linked mental retardation syndrome  - Nemours Children's Health System: Cleft Lip and Palate   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] Is trichohepatoenteric syndrome inherited ?

[Assistant] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


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[User] What is the outlook for Multifocal Motor Neuropathy ?

[Assistant] Improvement in muscle strength usually begins within 3 to 6 weeks after treatment is started. Most patients who receive treatment early experience little, if any, disability. However, there is evidence of slow progression over many years.


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[User] What is (are) Mobility Aids ?

[Assistant] Mobility aids help you walk or move from place to place if you are disabled or have an injury. They include       - Crutches    - Canes    - Walkers    - Wheelchairs    - Motorized scooters       You may need a walker or cane if you are at risk of falling. If you need to keep your body weight off your foot, ankle or knee, you may need crutches. You may need a wheelchair or a scooter if an injury or disease has left you unable to walk.     Choosing these devices takes time and research. You should be fitted for crutches, canes and walkers. If they fit, these devices give you support, but if they don't fit, they can be uncomfortable and unsafe.


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[User] What are the symptoms of Erythroderma lethal congenital ?

[Assistant] What are the signs and symptoms of Erythroderma lethal congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Erythroderma lethal congenital. 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) Dry skin 90% Ichthyosis 90% Malabsorption 90% Respiratory insufficiency 90% Urticaria 90% Autosomal recessive inheritance - Congenital exfoliative erythroderma - Death in infancy - Failure to thrive - Hypoalbuminemia - 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.


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[User] Is Buschke-Ollendorff syndrome inherited ?

[Assistant] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person has a parent and other family members with the condition. While most people with Buschke-Ollendorff syndrome have both connective tissue nevi and osteopoikilosis, some affected families include individuals who have the skin abnormalities alone or the bone abnormalities alone. When osteopoikilosis occurs without connective tissue nevi, the condition is often called isolated osteopoikilosis.


[System] The assistant is a factual and informative medical chatbot.

[User] What are the symptoms of Familial pemphigus vulgaris ?

[Assistant] What are the signs and symptoms of Familial pemphigus vulgaris? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial pemphigus vulgaris. 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) Acantholysis 90% Atypical scarring of skin 90% Feeding difficulties in infancy 90% Recurrent cutaneous abscess formation 90% Urticaria 90% Weight loss 90% Autoimmune antibody positivity - Autosomal dominant inheritance - Oral mucosal blisters - 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.


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[User] What are the treatments for Multiple System Atrophy ?

[Assistant] There is no cure for MSA. Currently, there are no treatments to delay the progress of neurodegeneration in the brain. But there are treatments available to help people cope with some of the more disabling symptoms of MSA. In some individuals, levodopa may improve motor function, but the benefit may not continue as the disease progresses.


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[User] How many people are affected by spondyloepiphyseal dysplasia congenita ?

[Assistant] This condition is rare; the exact incidence is unknown. More than 175 cases have been reported in the scientific literature.


[System] The assistant is a factual and informative medical chatbot.

[User] What is (are) progressive supranuclear palsy ?

[Assistant] Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after the disease first appears, although a few affected individuals have lived for more than a decade.  Loss of balance and frequent falls are the most common early signs of progressive supranuclear palsy. Affected individuals have problems with walking, including poor coordination and an unsteady, lurching gait. Other movement abnormalities develop as the disease progresses, including unusually slow movements (bradykinesia), clumsiness, and stiffness of the trunk muscles. These problems worsen with time, and most affected people ultimately require wheelchair assistance.  Progressive supranuclear palsy is also characterized by abnormal eye movements, which typically develop several years after the other movement problems first appear. Restricted up-and-down eye movement (vertical gaze palsy) is a hallmark of this disease. Other eye movement problems include difficulty opening and closing the eyelids, infrequent blinking, and pulling back (retraction) of the eyelids. These abnormalities can lead to blurred vision, an increased sensitivity to light (photophobia), and a staring gaze.  Additional features of progressive supranuclear palsy include slow and slurred speech (dysarthria) and trouble swallowing (dysphagia). Most affected individuals also experience changes in personality and behavior, such as a general loss of interest and enthusiasm (apathy). They develop problems with cognition, including difficulties with attention, planning, and problem solving. As the cognitive and behavioral problems worsen, affected individuals increasingly require help with personal care and other activities of daily living.


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[User] What is (are) Primary Biliary Cirrhosis ?

[Assistant]
Primary biliary cirrhosis is a chronic, or long lasting, disease that causes the small bile ducts in the liver to become inflamed and damaged and ultimately disappear.

The bile ducts carry a fluid called bile from the liver to the gallbladder, where it is stored. When food enters the stomach after a meal, the gallbladder contracts, and the bile ducts carry bile to the duodenum, the first part of the small intestine, for use in digestion. The liver makes bile, which is made up of bile acids, cholesterol, fats, and fluids. Bile helps the body absorb fats, cholesterol, and fat-soluble vitamins. Bile also carries cholesterol, toxins, and waste products to the intestines, where the body removes them. When chronic inflammation, or swelling, damages the bile ducts, bile and toxic wastes build up in the liver, damaging liver tissue.

This damage to the liver tissue can lead to cirrhosis, a condition in which the liver slowly deteriorates and is unable to function normally. In cirrhosis, scar tissue replaces healthy liver tissue, partially blocking the flow of blood through the liver.

The liver is the bodys largest internal organ. The liver is called the bodys metabolic factory because of the important role it plays in metabolismthe way cells change food into energy after food is digested and absorbed into the blood. The liver has many functions, including

- taking up, storing, and processing nutrients from foodincluding fat, sugar, and proteinand delivering them to the rest of the body when needed  - making new proteins, such as clotting factors and immune factors  - producing bile  - removing waste products the kidneys cannot remove, such as fats, cholesterol, toxins, and medications

A healthy liver is necessary for survival. The liver can regenerate most of its own cells when they become damaged. However, if injury to the liver is too severe or long lasting, regeneration is incomplete, and the liver creates scar tissue. Scarring of the liver may lead to cirrhosis.

The buildup of scar tissue that causes cirrhosis is usually a slow and gradual process. In the early stages of cirrhosis, the liver continues to function. However, as cirrhosis gets worse and scar tissue replaces more healthy tissue, the liver will begin to fail. Chronic liver failure, which is also called end-stage liver disease, progresses over months, years, or even decades. With end-stage liver disease, the liver can no longer perform important functions or effectively replace damaged cells.

Primary biliary cirrhosis usually occurs between the ages of 30 and 65 and affects women more often than men.1


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[User] What are the symptoms of Spinocerebellar ataxia 14 ?

[Assistant] What are the signs and symptoms of Spinocerebellar ataxia 14? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 14. 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) Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Cerebellar atrophy - Depression - Dysarthria - Dysmetria - Dysphagia - Facial myokymia - Focal dystonia - Gait ataxia - Hyperreflexia - Impaired vibration sensation at ankles - Incomplete penetrance - Memory impairment - Mental deterioration - Nystagmus - Progressive cerebellar ataxia - Slow progression - 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.


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[User] How many people are affected by hyperkalemic periodic paralysis ?

[Assistant] Hyperkalemic periodic paralysis affects an estimated 1 in 200,000 people.


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[User] What are the symptoms of WAGR syndrome ?

[Assistant] What are the signs and symptoms of WAGR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WAGR 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) Aniridia 90% Aplasia/Hypoplasia of the iris 90% Cognitive impairment 90% Cataract 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hearing abnormality 50% Hypospadias 50% Intellectual disability 50% Microcephaly 50% Nephroblastoma (Wilms tumor) 50% Nystagmus 50% Ptosis 50% Short stature 50% Visual impairment 50% Nephropathy 40% Abnormality of the vagina 33% Streak ovary 33% Abnormality of the uterus 7.5% Glaucoma 7.5% Gonadoblastoma 7.5% Hernia of the abdominal wall 7.5% Obesity 7.5% Scoliosis 7.5% Renal insufficiency 10/46 Autosomal dominant inheritance - Contiguous gene syndrome - Somatic mutation - 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.


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[User] What is (are) keratoderma with woolly hair ?

[Assistant] Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The woolly hair texture typically affects only scalp hair and is present from birth. Starting early in life, affected individuals also develop palmoplantar keratoderma, a condition that causes skin on the palms of the hands and the soles of the feet to become thick, scaly, and calloused.  Cardiomyopathy, which is a disease of the heart muscle, is a life-threatening health problem that can develop in people with keratoderma with woolly hair. Unlike the other features of this condition, signs and symptoms of cardiomyopathy may not appear until adolescence or later. Complications of cardiomyopathy can include an abnormal heartbeat (arrhythmia), heart failure, and sudden death.  Keratoderma with woolly hair comprises several related conditions with overlapping signs and symptoms. Researchers have recently proposed classifying keratoderma with woolly hair into four types, based on the underlying genetic cause. Type I, also known as Naxos disease, is characterized by palmoplantar keratoderma, woolly hair, and a form of cardiomyopathy called arrhythmogenic right ventricular cardiomyopathy (ARVC). Type II, also known as Carvajal syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy, called dilated left ventricular cardiomyopathy. Type III also has signs and symptoms similar to those of type I, including ARVC, although the hair and skin abnormalities are often milder. Type IV is characterized by palmoplantar keratoderma and woolly and sparse hair, as well as abnormal fingernails and toenails. Type IV does not appear to cause cardiomyopathy.


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[User] What is (are) Bruises ?

[Assistant] A bruise is a mark on your skin caused by blood trapped under the surface. It happens when an injury crushes small blood vessels but does not break the skin. Those vessels break open and leak blood under the skin.     Bruises are often painful and swollen. You can get skin, muscle and bone bruises. Bone bruises are the most serious.    It can take months for a bruise to fade, but most last about two weeks. They start off a reddish color, and then turn bluish-purple and greenish-yellow before returning to normal. To reduce bruising, ice the injured area and elevate it above your heart. See your healthcare provider if you seem to bruise for no reason, or if the bruise appears to be infected.


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[User] What is (are) Colorectal Cancer ?

[Assistant] Various drugs are under study as possible treatments for colorectal cancer. A 2005 study found that patients who took the drug AvastinTM with their standard chemotherapy treatment had a longer progression-free survival than those who did not take Avastin, but the evidence is mixed on whether or not Avastin can extend life. (The generic name for Avastin is bevacizumab.) Scientists are also working on vaccine therapies and monoclonal antibodies that may improve how patients' immune systems respond to colorectal cancers. Monoclonal antibodies are a single type of antibody that researchers make in large amounts in a laboratory.


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[User] What is (are) X-linked creatine deficiency ?

[Assistant] X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention deficit hyperactivity disorder or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with X-linked creatine deficiency may experience slow growth and exhibit delayed development of motor skills such as sitting and walking. Affected individuals tend to tire easily.  A small number of people with X-linked creatine deficiency have additional signs and symptoms including abnormal heart rhythms, an unusually small head (microcephaly), or distinctive facial features such as a broad forehead and a flat or sunken appearance of the middle of the face (midface hypoplasia).


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[User] Is restless legs syndrome inherited ?

[Assistant] The inheritance pattern of restless legs syndrome is usually unclear because many genetic and environmental factors can be involved. The disorder often runs in families: 40 to 90 percent of affected individuals report having at least one affected first-degree relative, such as a parent or sibling, and many families have multiple affected family members. Studies suggest that the early-onset form of the disorder is more likely to run in families than the late-onset form.  In some affected families, restless legs syndrome appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance suggests that one copy of an altered gene in each cell is sufficient to cause the disorder. However, the genetic changes associated with restless legs syndrome in these families have not been identified.


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[User] What are the symptoms of Dystonia 8 ?

[Assistant] What are the signs and symptoms of Dystonia 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 8. 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 - Childhood onset - Dysarthria - Dysphagia - Facial grimacing - Infantile onset - Myokymia - Paroxysmal choreoathetosis - Paroxysmal dystonia - Torticollis - 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.


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[User] What are the symptoms of Congenital adrenal hyperplasia ?

[Assistant] What are the signs and symptoms of Congenital adrenal hyperplasia? The signs and symptoms of congenital adrenal hyperplasia (CAH) vary based on many factors including the type of CAH, the age of diagnosis and the sex of the affected person. For example, girls with the severe form of CAH may be born with ambiguous genitalia, which often allows the condition to be diagnosed before other associated health problems such as poor feeding, vomiting, dehydration, and abnormal heart beat, can develop. Males typically appear unaffected at birth even when they have a severe form of CAH and without proper diagnosis, will develop associated health problems within 2-3 weeks after birth. Both genders can experience other symptoms such as early onset of puberty, fast body growth, and premature completion of growth leading to short stature, if they are not treated in early life. People affected by milder forms may not have any signs and symptoms of CAH during childhood. In these cases, a diagnosis may not be made until adolescence or adulthood when the affected person experiences early signs of puberty or fertility problems. Females with this type may have excessive facial or body hair; irregular menstrual periods; and/or acne. There are two main types of CAH: classic CAH, the more severe form, and a milder form called nonclassic CAH. For a detailed description of the signs and symptoms found in each type of CAH, please click here. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital adrenal hyperplasia. 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 metabolism/homeostasis 90% Accelerated skeletal maturation 90% Cryptorchidism 90% Displacement of the external urethral meatus 90% Female pseudohermaphroditism 90% Hypercortisolism 90% Abnormality of the thorax - Abnormality of the urinary system - Adrenal hyperplasia - Adrenogenital syndrome - Ambiguous genitalia, female - Autosomal recessive inheritance - Clitoromegaly - Congenital adrenal hyperplasia - Decreased circulating aldosterone level - Decreased circulating renin level - Decreased testicular size - Fever - Growth abnormality - Gynecomastia - Hyperpigmentation of the skin - Hypertension - Hypoglycemia - Hypokalemia - Hypokalemic alkalosis - Hypoplasia of the uterus - Hypoplasia of the vagina - Hypospadias - Long penis - Male pseudohermaphroditism - Neonatal onset - Precocious puberty in males - Primary amenorrhea - Renal salt wasting - Short stature - 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.


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[User] What are the treatments for Alcohol Use and Older Adults ?

[Assistant] Most people with alcohol problems can be treated successfully. People with an alcohol use disorder and those who misuse alcohol and cannot stay within healthy drinking limits should stop drinking altogether. Others can cut back until their drinking is under control. Changing drinking habits isnt easy. Often it takes more than one try to succeed. But people dont have to go it alone. There are plenty of sources of help. (Watch the video to learn more about getting help for alcohol use disorder (AUD). To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) A doctor can help decide the best treatment for people with alcohol problems. Many people need more than one kind of treatment. Medicines can help people with an alcohol use disorder quit drinking. Meeting with a therapist or substance-abuse counselor or with a support group may also help. Support from family and friends is important, too. Making a change sooner rather than later makes treatment more likely to succeed. When treatment is successful, people have longer and longer periods without drinking alcohol. Finally, they are able to stop drinking or stick to healthy drinking limits. But treatment does not always work. Relapse is common among people who overcome alcohol problems. People with drinking problems are most likely to relapse during periods of stress or when exposed to people or places associated with past drinking.  Learn more about the treatment process for alcohol use disorder.


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[User] How to diagnose Cornelia de Lange syndrome ?

[Assistant] How is Cornelia de Lange syndrome diagnosed? A diagnosis of Cornelia de Lange syndrome (CdLS) is generally based on the presence of characteristic signs and symptoms during a thorough medical evaluation. In some cases, genetic testing can be ordered to confirm the diagnosis; however, it may not be informative in all people affected by CdLS as the underlying genetic cause is unknown in approximately 30% of cases. GeneReviews' Web site offers more specific information about the treatment and management of CdLS. Please click on the link to access this resource.


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[User] What are the treatments for Sotos syndrome ?

[Assistant] These resources address the diagnosis or management of Sotos syndrome:  - Gene Review: Gene Review: Sotos Syndrome  - Genetic Testing Registry: Sotos' syndrome  - MedlinePlus Encyclopedia: Increased Head Circumference   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What is (are) Urinary Tract Infections ?

[Assistant] Urinary tract infections (UTI) are a common bladder problem, especially as people age. UTIs are the second most common type of infection in the body. Each year, UTIs cause more than 8 million visits to health care providers. UTIs can happen anywhere in the urinary system (which includes the kidneys, bladder, and urethra). But UTIs are most common in the bladder. A UTI in the bladder is called cystitis. Infections in the bladder can spread to the kidneys. A UTI in the kidneys is called pyelonephritis. Sometimes, a UTI can also develop in the urethra, but this is less common. A UTI in the urethra is called urethritis. Learn more about urinary tract infections in adults.


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[User] What is (are) Lennox-Gastaut syndrome ?

[Assistant] Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. This condition can be caused by brain malformations, perinatal asphyxia (lack of oxygen), severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In about one-third of cases, no cause can be found. Treatment for Lennox-Gastaut syndrome includes anti-epileptic medications such as valproate, lamotrigine, felbamate, or topiramate. There is usually no single antiepileptic medication that will control seizures. Children may improve initially, but many later show tolerance to a drug or develop uncontrollable seizures.


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[User] Do you have information about Fires

[Assistant] Summary : Whether a fire happens in your home or in the wild, it can be very dangerous. Fire spreads quickly. There is no time to gather valuables or make a phone call. In just two minutes, a fire can become life-threatening. In five minutes, a home can be engulfed in flames.    Heat and smoke from fire can be more dangerous than the flames. Inhaling the super-hot air can burn your lungs. Fire produces poisonous gases that make you disoriented and drowsy. Instead of being awakened by a fire, you may fall into a deeper sleep. You can suffocate or be burned.    Preventing fires is an important part of fire safety. Although there are no guarantees of safety during a fire, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope.    Federal Emergency Management Agency