You are using an outdated browser. Please upgrade your browser to improve your experience.

spinocerebellar ataxia type 14

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.
Uniprot Description Spinocerebellar ataxia is 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. SCA14 is an autosomal dominant cerebellar ataxia (ADCA).
Mondo Term and Equivalent IDs
MONDO:0011540:  spinocerebellar ataxia type 14
GARD:0009867: 
MESH:C537196: 
Orphanet:98763: 
SCTID:719210007: 
UMLS:C1854369: 
UMLS:C4304883: