Benign hereditary chorea (BHC), also known as benign familial chorea, is a rare autosomal dominant neurogenetic syndrome. It typically presents itself in childhood with isolated chorea, with average to below average intelligence. Unlike other neurogenetic causes of chorea such as Huntington's disease, BHC is not progressive, and not associated with cognitive decline or psychiatric problems in the vast majority of cases.
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| - Benign hereditary chorea (en)
- Benigne hereditäre Chorea (de)
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| - Die Benigne hereditäre Chorea ist eine sehr seltene angeborene Erkrankung mit einer Bewegungsstörung (Chorea) bereits im Kindesalter ohne nennenswerte Verschlechterung im „gutartigen“ (benignen) Verlauf und ohne weitere klinische Auffälligkeiten. Synonyme sind: BHC; Chorea, familiäre gutartige Die Erstbeschreibung stammt aus dem Jahre 1966 durch die US-amerikanischen Ärzte A. F. Haerer und Mitarbeiter auf dem Jahrestreffen der American Academy of Neurology in Philadelphia, PA, publiziert im Jahre Juni 1967 Nahezu zeitgleich erschien ein Bericht von Jonathan H. Pincus und Abe Chutorian. (de)
- Benign hereditary chorea (BHC), also known as benign familial chorea, is a rare autosomal dominant neurogenetic syndrome. It typically presents itself in childhood with isolated chorea, with average to below average intelligence. Unlike other neurogenetic causes of chorea such as Huntington's disease, BHC is not progressive, and not associated with cognitive decline or psychiatric problems in the vast majority of cases. (en)
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| - Benign hereditary chorea (BHC) (en)
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| - Benign hereditary chorea (en)
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| - Based on symptoms, genetic testing (en)
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| - Low muscle tone, involuntary movements, motor and vocal tics (en)
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| - Mutations of the TITF1 gene (en)
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| - Benign familial chorea (en)
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| - Benign hereditary chorea (BHC), also known as benign familial chorea, is a rare autosomal dominant neurogenetic syndrome. It typically presents itself in childhood with isolated chorea, with average to below average intelligence. Unlike other neurogenetic causes of chorea such as Huntington's disease, BHC is not progressive, and not associated with cognitive decline or psychiatric problems in the vast majority of cases. The first description of BHC was reported in 1967 in an African American family from Mississippi. Two brothers reportedly had delayed motor development in childhood and were diagnosed with chorea. These findings were reaffirmed by other families reporting similar traits and an autosomal dominant pattern of inheritance was suggested. However, heterogeneity in the presentations of the affected individuals made confirmation of these diagnoses of BHC difficult to prove. Features reported in these families, including dystonia, tremor, and myoclonus, led researchers to question whether BHC actually represents different diagnoses with similar phenotypes inappropriately grouped together. Further research in 2000 confirmed a connection between a Dutch family reporting similar characteristics of BHC and one of the original families. The investigators identified a linkage to a disease locus on the long arm of chromosome 14 from this connection. (en)
- Die Benigne hereditäre Chorea ist eine sehr seltene angeborene Erkrankung mit einer Bewegungsstörung (Chorea) bereits im Kindesalter ohne nennenswerte Verschlechterung im „gutartigen“ (benignen) Verlauf und ohne weitere klinische Auffälligkeiten. Synonyme sind: BHC; Chorea, familiäre gutartige Die Erstbeschreibung stammt aus dem Jahre 1966 durch die US-amerikanischen Ärzte A. F. Haerer und Mitarbeiter auf dem Jahrestreffen der American Academy of Neurology in Philadelphia, PA, publiziert im Jahre Juni 1967 Nahezu zeitgleich erschien ein Bericht von Jonathan H. Pincus und Abe Chutorian. (de)
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| - NKX2-1-Related Disorders (en)
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| - NKX2-1-Related Disorders (en)
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