Diseases of the nervous system
Systemic atrophies primarily affecting the central nervous system
14q32.11-q32.12
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]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616053.1 | Lebanon | Unknown | No | Unsteady gait; Dysarthria; Visual impair... Unsteady gait; Dysarthria; Visual impairment  | NM_001080414.4:c.5922T>G | Heterozygous | Autosomal, Dominant | Jalkh et al. 2019 |