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spinocerebellar ataxia type 38

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.
Uniprot Description A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA38 is an autosomal dominant form characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy.
Mondo Term and Equivalent IDs
MONDO:0014417:  spinocerebellar ataxia type 38
EFO:0009056: 
GARD:0012369: 
Orphanet:423296: 
SCTID:734021001: 
UMLS:C4014812: 
UMLS:C4518337: