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spinocerebellar ataxia type 41

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.
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.
Mondo Term and Equivalent IDs
MONDO:0014626:  spinocerebellar ataxia type 41
DOID:0111744: 
EFO:0009058: 
Orphanet:458798: 
UMLS:C4225158: