Spinocerebellar Ataxia 40

Alternative Names

  • SCA40
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WHO-ICD-10 version:2010

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

OMIM Number

616053

Gene Map Locus

14q32.11-q32.12

Description

Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. [From Orphanet]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
616053.1LebanonUnknownNo Unsteady gait; Dysarthria; Visual impair... NM_001080414.4:c.5922T>GHeterozygousAutosomal, DominantJalkh et al. 2019
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