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

myoclonic cerebellar dyssynergia

Disease Summary
Associated Targets ()

Mondo Description A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)
Mondo Term and Equivalent IDs
MONDO:0008945:  myoclonic cerebellar dyssynergia
EFO:1001053: 
MESH:D002527: 
SCTID:73495003: 
UMLS:C0007761: