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What is (are) D-2-alpha hydroxyglutaric aciduria ? | D-2-alpha hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such ... | |
What are the symptoms of D-2-alpha hydroxyglutaric aciduria ? | What are the signs and symptoms of D-2-alpha hydroxyglutaric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for D-2-alpha hydroxyglutaric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | |
What are the symptoms of Ring chromosome 10 ? | What are the signs and symptoms of Ring chromosome 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Ring chromosome 10. 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 Diction... | |
What is (are) Benign hereditary chorea ? | Benign hereditary chorea (BHC) is a rare movement disorder that begins in infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky mus... | |
What are the symptoms of Benign hereditary chorea ? | What are the signs and symptoms of Benign hereditary chorea? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign hereditary chorea. 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 Med... | |
What is (are) Congenital contractural arachnodactyly ? | Congenital contractural arachnodactyly (CCA) is a genetic disorder that is typically characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; "crumpled"... | |
What are the symptoms of Congenital contractural arachnodactyly ? | What are the signs and symptoms of Congenital contractural arachnodactyly? Congenital contractural arachnodactyly represents a broad spectrum of characteristics. The features are quite variable, both within and between families. The classic form is characterized by a Marfan-like appearance (tall and slender with arm sp... | |
What causes Congenital contractural arachnodactyly ? | What causes congenital contractural arachnodactyly? Congenital contractural arachnodactyly is caused by mutations in the FBN2 gene. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils ... | |
Is Congenital contractural arachnodactyly inherited ? | How is congenital contractural arachnodactyly inherited? 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 some cases, an affected person inherits the mutation from an affected parent. Other cases result from new m... | |
What are the treatments for Congenital contractural arachnodactyly ? | How might congenital contractural arachnodactyly be treated? Physical therapy for joint contractures helps increase joint mobility and ameliorate the effects of muscle hypoplasia (usually in the calf muscles). In severe cases, surgical release may be necessary. Since the kyphosis/scoliosis tends to be progressive, brac... | |
What are the symptoms of Poikiloderma with neutropenia ? | What are the signs and symptoms of Poikiloderma with neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Poikiloderma with neutropenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | |
What are the symptoms of Onychodystrophy-anonychia ? | What are the signs and symptoms of Onychodystrophy-anonychia? The Human Phenotype Ontology provides the following list of signs and symptoms for Onychodystrophy-anonychia. 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 M... | |
What is (are) Chromoblastomycosis ? | Chromoblastomycosis is a chronic fungal infection characterized by raised and crusted lesions which affect the skin and subcutaneous tissue. It most often occurs on the limbs, but can affect any area of the body. Chromoblastomycosis is caused by several fungi found in soil, wood, and decaying plant material. It usually... | |
What are the symptoms of Game Friedman Paradice syndrome ? | What are the signs and symptoms of Game Friedman Paradice syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Game Friedman Paradice 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 M... | |
What are the symptoms of Epidermolysis bullosa simplex, Dowling-Meara type ? | What are the signs and symptoms of Epidermolysis bullosa simplex, Dowling-Meara type? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, Dowling-Meara type. If the information is available, the table below includes how often the symptom is seen in people wi... | |
What is (are) Myelofibrosis ? | Myelofibrosis is a disorder of the bone marrow, in which the marrow is replaced by fibrous (scar) tissue. Scarring of the bone marrow causes anemia, which can lead to fatigue and weakness, as well as pooling of the blood in abnormal sites like the liver and spleen, causing these organs to swell. Although myelofibrosis ... | |
What are the symptoms of Myelofibrosis ? | What are the signs and symptoms of Myelofibrosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelofibrosis. 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 loo... | |
What is (are) Buschke Lowenstein tumor ? | Buschke Lowenstein tumor is a tumor that most commonly occurs near the penis or anus. This tumor often looks like a large genital wart; it tends to grow slowly, but can sometimes grow very large and spread into surrounding tissues. These tumors rarely spread to other parts of the body. Treatment of these tumors begi... | |
What are the symptoms of Microcephaly cervical spine fusion anomalies ? | 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 co... | |
What are the symptoms of Myasthenia gravis, limb-girdle ? | What are the signs and symptoms of Myasthenia gravis, limb-girdle? The Human Phenotype Ontology provides the following list of signs and symptoms for Myasthenia gravis, limb-girdle. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | |
What are the symptoms of Epidermolysis bullosa, lethal acantholytic ? | What are the signs and symptoms of Epidermolysis bullosa, lethal acantholytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa, lethal acantholytic. If the information is available, the table below includes how often the symptom is seen in people with this condit... | |
What are the symptoms of Mitochondrial Membrane Protein-Associated Neurodegeneration ? | What are the signs and symptoms of Mitochondrial Membrane Protein-Associated Neurodegeneration ? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial Membrane Protein-Associated Neurodegeneration . If the information is available, the table below includes how often the sympto... | |
What is (are) Alopecia areata ? | Alopecia areata (AA) is an autoimmune disease in which the immune system mistakenly attacks the hair follicles. In most cases, hair falls out in small, round patches on the scalp. Although uncommon, hair loss can be more extensive in some people and affect other parts of the body. This condition can progress to complet... | |
What are the symptoms of Alopecia areata ? | What are the signs and symptoms of Alopecia areata? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia areata. 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... | |
What are the symptoms of Keratosis palmoplantaris striata 1 ? | What are the signs and symptoms of Keratosis palmoplantaris striata 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis palmoplantaris striata 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | |
What are the symptoms of Cardiomyopathy dilated with woolly hair and keratoderma ? | What are the signs and symptoms of Cardiomyopathy dilated with woolly hair and keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiomyopathy dilated with woolly hair and keratoderma. If the information is available, the table below includes how often the symptom is seen ... | |
What is (are) Hemorrhagic shock and encephalopathy syndrome ? | Hemorrhagic shock and encephalopathy syndrome (HSES) is a rare disease that occurs suddenly in previously healthy children. This condition is characterized by severe shock, coagulopathy, encephalopathy, and liver and kidney dysfunction. Most cases of HSES occur in infants from age 3 to 8 months, although it can also oc... | |
What causes Hemorrhagic shock and encephalopathy syndrome ? | What causes hemorrhagic shock and encephalopathy syndrome? The cause of hemorrhagic shock and encephalopathy syndrome is unknown. Some researchers believe that this condition is caused by a complex combination of genetic and environmental factors. Researchers have proposed various factors that may contribute to the dev... | |
What is (are) Camurati Engelmann disease, type 2 ? | Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddli... | |
What are the symptoms of Amyotrophic lateral sclerosis type 6 ? | What are the signs and symptoms of Amyotrophic lateral sclerosis type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | |
What are the symptoms of Microphthalmia syndromic 6 ? | What are the signs and symptoms of Microphthalmia syndromic 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 6. 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... | |
What are the symptoms of Salcedo syndrome ? | What are the signs and symptoms of Salcedo syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Salcedo 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 ... | |
What is (are) Temporomandibular ankylosis ? | Temporomandibular ankylosis is a condition that occurs when the temporomandibular joint (the joint that connects the jaw to the side of the head) becomes fused by bony or fibrous tissue. As a result, affected people may experience pain, speech impairment, and difficulty chewing and swallowing. It can interfere with nut... | |
What are the symptoms of Fibular hypoplasia and complex brachydactyly ? | What are the signs and symptoms of Fibular hypoplasia and complex brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibular hypoplasia and complex brachydactyly. If the information is available, the table below includes how often the symptom is seen in people with this co... | |
What is (are) Juvenile myoclonic epilepsy ? | Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered b... | |
What causes Juvenile myoclonic epilepsy ? | What causes juvenile myoclonic epilepsy? The exact cause of juvenile myoclonic epilepsy remains unknown. It is not associated with conditions such as head trauma, brain tumor, or encephalitis. Several families have specific mutations in various genes and a complex mode of inheritance. In individuals with juvenile myocl... | |
Is Juvenile myoclonic epilepsy inherited ? | Is juvenile myoclonic epilepsy inherited? If I have juvenile myoclonic epilepsy, will my children also have it? Juvenile myoclonic epilepsy is an inherited disorder (about a third of patients with this condition have a positive family history of epilepsy), but the exact mode of inheritance is not clear. A number of stu... | |
What are the treatments for Juvenile myoclonic epilepsy ? | How might juvenile myoclonic epilepsy be treated? Avoidance of precipitating events such as alcohol use and sleep deprivation may be useful but is not sufficient to control the seizures of juvenile myoclonic epilepsy. Medical therapy with anticonvulsants is typically needed and well tolerated. The majority of patients ... | |
What is (are) Hereditary sensory neuropathy type 1 ? | Hereditary sensory neuropathy type 1 (HSN1) is a neurological condition characterized by nerve abnormalities in the legs and feet. Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected people do not lose sensation, but instead feel shooting pai... | |
What are the symptoms of Hereditary sensory neuropathy type 1 ? | What are the signs and symptoms of Hereditary sensory neuropathy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory neuropathy type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | |
Is Hereditary sensory neuropathy type 1 inherited ? | How is hereditary sensory neuropathy type 1 inherited? Hereditary sensory neuropathy type 1 (HSN1) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. When a person with an autos... | |
How to diagnose Hereditary sensory neuropathy type 1 ? | Is genetic testing available for hereditary sensory neuropathy type 1? At least four genes responsible for hereditary sensory neuropathy type 1 (HSN1) have been found: HSN1A (the most common form) is associated with mutations in the SPTLC1 gene HSN1B, reported in a small number of families, is linked to a specific loca... | |
What are the treatments for Hereditary sensory neuropathy type 1 ? | How might hereditary sensory neuropathy type 1 be treated? Management of hereditary sensory neuropathy type 1 generally follows the guidelines for diabetic foot care, including careful cleansing and protection of wounds and surgical care when needed. Pain medications may be used by those who experience shooting pains. | |
What is (are) Optic atrophy 1 ? | Optic atrophy 1 is a condition that mainly affects vision, but may include other features. Vision loss typically begins within the first decade of life; severity varies widely among affected people (from nearly normal vision to complete blindness), even among members of the same family. Vision problems may include diff... | |
What are the symptoms of Optic atrophy 1 ? | What are the signs and symptoms of Optic atrophy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to... | |
What are the symptoms of Pontocerebellar hypoplasia type 6 ? | What are the signs and symptoms of Pontocerebellar hypoplasia type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | |
What are the symptoms of Cataract-microcephaly-failure to thrive-kyphoscoliosis ? | What are the signs and symptoms of Cataract-microcephaly-failure to thrive-kyphoscoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract-microcephaly-failure to thrive-kyphoscoliosis. If the information is available, the table below includes how often the symptom is seen in... | |
What is (are) Medullary cystic kidney disease 1 ? | Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary ... | |
What are the symptoms of Medullary cystic kidney disease 1 ? | What are the signs and symptoms of Medullary cystic kidney disease 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Medullary cystic kidney disease 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | |
What are the symptoms of Osteopenia and sparse hair ? | What are the signs and symptoms of Osteopenia and sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopenia and sparse hair. 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... | |
What is (are) Coffin-Siris syndrome ? | Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped pinky toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 g... | |
What are the symptoms of Coffin-Siris syndrome ? | What are the signs and symptoms of Coffin-Siris syndrome? The signs and symptoms of Coffin-Siris syndrome vary. More commonly described symptoms include: Mild to severe intellectual disability Mild to severe speech delay Mild to severe delay in motor skills, such as sitting and walking Underdeveloped fingertips or toes... | |
What causes Coffin-Siris syndrome ? | What causes Coffin-Siris syndrome? Coffin-Siris syndrome is caused by a change (mutation) in either the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Exactly how these gene mutations result in the symptoms of Coffin-Siris syndrome is not known, however it is thought that the mutations affect how genetic material i... | |
How to diagnose Coffin-Siris syndrome ? | How is Coffin-Siris syndrome diagnosed? Diagnosis of Coffin-Siris syndrome is largely based upon the presence or absence of common signs and symptoms in the individual. While formal diagnostic criteria have not been established, most individuals with a clinical diagnosis of Coffin-Siris syndrome have certain features i... | |
What are the treatments for Coffin-Siris syndrome ? | How might Coffin-Siris syndrome be treated? People with Coffin-Siris syndrome may benefit from occupational, physical, and speech therapy. Developmental pediatricians may be helpful in recommending and coordinating therapeutic and educational interventions. Additional specialty care may be needed depending on the sympt... | |
What is (are) Churg Strauss syndrome ? | Churg Strauss syndrome is a condition characterized by asthma, high levels of eosinophils (a type of white blood cell that helps fight infection), and inflammation of small to medium sized blood vessels (vasculitis). The inflamed vessels can affect various organ systems including the lungs, gastrointestinal tract, skin... | |
What are the symptoms of Churg Strauss syndrome ? | What are the signs and symptoms of Churg Strauss syndrome? The specific signs and symptoms of Churg Strauss syndrome (CSS) vary from person to person depending on the organ systems involved. The severity, duration and age of onset also vary. CSS is considered to have three distinct phases - prodromal (allergic), eosino... | |
What is (are) Malignant peripheral nerve sheath tumor ? | A malignant peripheral nerve sheath tumor (MPNST) is a tumor that develops from nerve tissue. The first symptom of MPNST is a lump or mass that increases in size, sometimes causing pain or a tingling sensation. MPNST is considered an aggressive tumor because there is up to a 65% chance of the tumor regrowing after su... | |
What are the symptoms of Bartter syndrome antenatal type 2 ? | What are the signs and symptoms of Bartter syndrome antenatal type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome antenatal type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | |
What is (are) X-linked lymphoproliferative syndrome ? | null | |
What are the symptoms of X-linked lymphoproliferative syndrome ? | What are the signs and symptoms of X-linked lymphoproliferative syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What is (are) Andermann syndrome ? | Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms of the disorder include areflexia; hypotonia; amyotrophy; severe progress... | |
What are the symptoms of Andermann syndrome ? | What are the signs and symptoms of Andermann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Andermann 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 Diction... | |
What is (are) Punctate inner choroidopathy ? | Punctate inner choroidopathy (PIC) is an inflammatory disorder that primarily affects the choroid of the eye and occurs predominantly in young, nearsighted (myopic) women. Signs and symptoms may include scotomata, blurred vision, photopsias, floaters, photophobia, distorted vision (metamorphopsia), and/or loss of perip... | |
What is (are) Chromosome 4p deletion ? | Chromosome 4p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 4. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occ... | |
What is (are) Marden-Walker syndrome ? | Marden-Walker syndrome is a connective tissue disorder characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation (a generalized s... | |
What are the symptoms of Marden-Walker syndrome ? | What are the signs and symptoms of Marden-Walker syndrome? Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), small mouth, micrognathia, cleft or high-arched palate, low-set ears, multiple congenital joint contractures (chronic shortening of muscles or te... | |
What causes Marden-Walker syndrome ? | What causes Marden-Walker syndrome? The underlying cause of Marden-Walker syndrome has not been clearly established. It appears to be a developmental disorder of the central nervous system and is likely to be the expression of various heterogeneous diseases. | |
Is Marden-Walker syndrome inherited ? | Is Marden-Walker syndrome inherited? Marden-Walker syndrome is thought to be inherited in an autosomal recessive manner since cases of affected siblings and parental consanguinity (the parents of the child with the condition are related to each other) have been reported. | |
What are the treatments for Marden-Walker syndrome ? | How might Marden-Walker syndrome be treated? Very little information is available regarding the treatment of Marden-Walker syndrome. In general, treatment is symptomatic, with a multidisciplinary approach. The team of providers may include a regular pediatrician, a geneticist, a neurologist, an orthopedist and/or a phy... | |
What is (are) Myotonic dystrophy ? | Myotonic dystrophy is an inherited condition that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person's 20s or 30s. This condition is characterized by progressive muscle loss and weakness, particularly in the lower legs, hands, neck,... | |
What are the symptoms of Myotonic dystrophy ? | What are the signs and symptoms of Myotonic dystrophy? Signs and symptoms of myotonic dystrophy often begin in a person's 20s or 30s, but they can begin at any age. Symptoms often include progressive muscle weakness and wasting (particularly in the legs, hands, neck and face); stiffness and tightness of the muscles; ca... | |
What causes Myotonic dystrophy ? | What causes myotonic dystrophy? Myotonic dystrophy is caused by mutations called nucleotide repeat expansions in either the DMPK gene (in type 1) or the CNBP gene (in type 2). Nucleotide repeat expansions occur when a piece of DNA is abnormally repeated a number of times, which makes the gene unstable. In myotonic dyst... | |
What are the treatments for Myotonic dystrophy ? | What treatment is available for for myotonic dystrophy? There is currently no cure or specific treatment for myotonic dystrophy. Treatment is aimed at managing symptoms and minimizing disability. Routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain. Canes,... | |
What is (are) Binswanger's disease ? | Binswanger's disease is a type of dementia caused by widespread, microscopic areas of damage to the deep layers of white matter in the brain. Most affected people experience progressive memory loss and deterioration of intellectual abilities (dementia); urinary urgency or incontinence; and an abnormally slow, unsteady ... | |
What are the symptoms of Binswanger's disease ? | What are the signs and symptoms of Binswanger's disease? The signs and symptoms associated with Binswanger's disease generally disrupt tasks related to "executive cognitive functioning," including short-term memory, organization, mood, the regulation of attention, the ability to make decisions, and appropriate behavior... | |
What causes Binswanger's disease ? | What causes Binswanger's disease? Binswanger's disease occurs when the blood vessels that supply the deep structures of the brain become obstructed (blocked). As the arteries become more and more narrowed, the blood supplied by those arteries decreases and brain tissue dies. This can be caused by atherosclerosis, throm... | |
Is Binswanger's disease inherited ? | Is Binswanger's disease an inherited condition? Although Binswanger's disease is not considered an inherited condition, genetics may play a role in many of the conditions and risk factors that are associated with the disease (i.e. atherosclerosis, blood clots). | |
How to diagnose Binswanger's disease ? | How is Binswanger's disease diagnosed? A diagnosis of Binswanger's disease is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies of the brain (i.e. CT scan and/or MRI scan). | |
What are the treatments for Binswanger's disease ? | How is Binswanger's disease treated? The brain damage associated with Binswanger's disease is not reversible. Treatment is based on the signs and symptoms present in each person. For example, medications may be prescribed to treat depression, agitation, and other symptoms associated with the condition. Successful manag... | |
What is (are) Spondylothoracic dysostosis ? | Spondylothoracic dysostosis is a rare condition that affects the bones of the spine and the ribs. Signs and symptoms are generally present at birth and may include short-trunk dwarfism (a short body with normal length arms and legs); a small chest cavity; misshapen and abnormally fused vertebrae (bones of the spine); a... | |
What are the symptoms of Spondylothoracic dysostosis ? | What are the signs and symptoms of spondylothoracic dysostosis? Signs and symptoms of spondylothoracic dysostosis, include spine and vertebral abnormalities which result in a shortened spine, neck, and trunk, as well as rib anomalies including fused ribs which in combination with the spine anomalies result in a "crab-l... | |
Is Spondylothoracic dysostosis inherited ? | Is spondylothoracic dysostosis genetic? Yes. Spondylothoracic dysostosis is caused by mutations in the MESP2 gene. It is inherited in an autosomal recessive fashion. | |
What are the treatments for Spondylothoracic dysostosis ? | What treatment is available for spondylothoracic dysostosis? Many infants born with spondylothoracic dysostosis have difficulty breathing due to their small, malformed chests, and therefore are prone to repeated respiratory infections (pneumonia). As the infant grows, the chest is too small to accommodate the growing l... | |
What are the symptoms of Lassueur-Graham-Little syndrome ? | What are the signs and symptoms of Lassueur-Graham-Little syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lassueur-Graham-Little 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 M... | |
What is (are) Relapsing polychondritis ? | Relapsing polychondritis (RP) is a rare condition characterized by recurrent inflammation of cartilage and other tissues throughout the body. Cartilage is a tough but flexible tissue that covers the ends of bones at a joint, and gives shape and support to other parts of the body. Ear involvement is the most common feat... | |
What are the symptoms of Relapsing polychondritis ? | What are the signs and symptoms of Relapsing polychondritis? Relapsing polychondritis (RP) is characterized by recurrent inflammation of cartilage (the tough but flexible tissue that covers the ends of bones at a joint) and other tissues throughout the body. The features of the condition and the severity of symptoms va... | |
What causes Relapsing polychondritis ? | What causes relapsing polychondritis? The exact underlying cause of relapsing polychondritis (RP) is unknown. However, scientists suspect that it is an autoimmune condition. It it thought that RP occurs when the body's immune system mistakenly attacks its own cartilage and other tissues. In general, autoimmune conditio... | |
Is Relapsing polychondritis inherited ? | Is relapsing polychondritis inherited? Relapsing polychondritis (RP) is not passed through families in a clear-cut fashion. Most people with relapsing polychondritis do not have affected relatives. Like many other autoimmune conditions, RP is likely a multifactorial condition which is associated with the effects of mul... | |
How to diagnose Relapsing polychondritis ? | How is relapsing polychondritis diagnosed? There are no tests available that are specific for relapsing polychondritis (RP). A diagnosis is, therefore, generally based on the presence of characteristic signs and symptoms. For example, people may be diagnosed as having RP if they have three or more of the following feat... | |
What are the treatments for Relapsing polychondritis ? | How might relapsing polychondritis be treated? The primary goals of treatment for people with relapsing polychondritis (RP) are to relieve present symptoms and to preserve the structure of the affected cartilage. The main treatment for RP is corticosteroid therapy with prednisone to decrease the severity, frequency and... | |
What is (are) Stenotrophomonas maltophilia infection ? | Stenotrophomonas maltophilia (S. maltophilia) infection is a healthcare-associated bacterial infection caused by S. maltophilia bacteria. These bacteria typically colonize (live in or on) areas of the body without causing infection. However, people who are hospitalized and receiving treatment for other conditions may b... | |
What are the symptoms of Stenotrophomonas maltophilia infection ? | What are the signs and symptoms of Stenotrophomonas maltophilia infection? S. maltophilia bacteria usually colonize (live in or on) areas of the body without causing infection. In these cases, people have no signs or symptoms of a bacterial infection. When present, the features of Stenotrophomonas maltophilia (S. malto... | |
What causes Stenotrophomonas maltophilia infection ? | What causes Stenotrophomonas maltophilia infection? Stenotrophomonas maltophilia (S. maltophilia) infections are caused by the S. maltophilia bacteria. These bacteria live in various aquatic (water-based) environments. In a hospital setting, they are able to survive and multiply in fluids such as respiratory secretions... | |
How to diagnose Stenotrophomonas maltophilia infection ? | How is Stenotrophomonas maltophilia infection diagnosed? Stenotrophomonas maltophilia (S. maltophilia) infection is usually diagnosed by examining a small sample of blood, mucus, and/or urine. When an infection is suspected, possible sites of infection including wounds, intravenous (vein) catheters, urinary catheters, ... | |
What are the treatments for Stenotrophomonas maltophilia infection ? | How might Stenotrophomonas maltophilia infection be treated? Stenotrophomonas maltophilia (S. maltophilia) bacteria are usually resistant to many antibiotics. The recommended therapy is trimethoprim-sulfamethoxazole (also called co-trimoxazole, or TMP-SMX). If this medication can not be used, a variety of other antibio... | |
What is (are) Hashimoto's encephalitis ? | Hashimoto's encephalitis (HE) is a condition characterized by onset of confusion with altered level of consciousness; seizures; and jerking of muscles (myoclonus). Psychosis, including visual hallucinations and paranoid delusions, has also been reported. The exact cause of HE is not known, but may involve an autoimmune... | |
What are the symptoms of Hashimoto's encephalitis ? | What are the signs and symptoms of Hashimoto's encephalitis? The symptoms of Hashimoto's encephalitis can vary among affected people. They most often include sudden or subacute onset of confusion with alteration of consciousness. Some affected people have multiple, recurrent episodes of neurological deficits with cogni... | |
What causes Hashimoto's encephalitis ? | What causes Hashimoto's encephalitis? The exact cause of Hashimoto's encephalitis (HE) is unknown, but is thought to relate to autoimmune or other autoinflammatory processes. While it is associated with Hashimoto's thyroiditis, the exact nature of the relationship between the two conditions is unclear. It does not appe... | |
Is Hashimoto's encephalitis inherited ? | Is Hashimoto's encephalitis inherited? We are aware of only one instance when more than one person in the same family had Hashimoto's encephalitis (HE). To our knowledge, no other cases of familial HE have been reported; HE typically occurs in people with no family history of the condition (sporadically). HE can occur ... |
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