dystonia 23
focal dystonia characterized by autosomal dominant inheritance of adult-onset cervical dystonia with onset typically in the fourth or fifth decade of life that has material basis in heterozygous mutation in the CACNA1B gene on chromosome 9q34
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Summary
dystonia 23 is a rare disease[1]. It is known by 5 alternative names across languages and contexts.[2]
Key Facts
- Instance of: class of disease[3]
- Subclass of: focal dystonia[4], focal, segmental or multifocal dystonia[5], genetic disease[6], autosomal dominant disease[7]
- Prevalence: 0.000001[8]
- Health specialty: neurology[9]
- Genetic association: CACNA1B[10], CIZ1[11]
- Age of onset: adult onset[12]
- Exact match: http://purl.obolibrary.org/obo/DOID_0090051[13], http://identifiers.org/doid/DOID:0090051[14]
- On focus list of Wikimedia project: WikiProject Medicine[15]
- Has phenotype: congenital torticollis[16], gait abnormality[17], myoclonus[18], dysphonia[19], focal hand dystonia[20], Q141815193[21], focal dystonia[22], cerebellar atrophy[23], hyperventilation[24], supraventricular arrhythmia[25], heart arrhythmia[26], panic disorder[27]
- P14914: D420492[28]