Myoclonic cerebellar dyssynergia

MONDO:0008945

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)

Also known as: cerebelloparenchymal disorder type 5, dyssynergia cerebellaris myoclonica, myoclonus and ataxia, CPD5, Ramsay Hunt cerebellar syndrome, Ramsay Hunt syndrome, Ramsay Hunt syndrome type 1, Ramsay Hunt syndrome type 1 (formerly)

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