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spinocerebellar ataxia type 29

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.
Uniprot Description An autosomal dominant, congenital spinocerebellar ataxia characterized by early motor delay, hypotonia and mild cognitive delay. Affected individuals develop a very slowly progressive or non-progressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor.
Mondo Term and Equivalent IDs
MONDO:0007298:  spinocerebellar ataxia type 29
GARD:0010480: 
MESH:C537206: 
Orphanet:208513: 
SCTID:715825009: 
UMLS:C1861732: 
UMLS:C4274987: