/myoclonic cerebellar dyssynergia

myoclonic cerebellar dyssynergia

Rare Disease

MONDO:0008945

Also Known As

cerebelloparenchymal disorder type 5dyssynergia cerebellaris myoclonicamyoclonus and ataxiaprogressive cerebellar tremorCPD5Ramsay Hunt cerebellar syndromeRamsay Hunt syndromeRamsay Hunt syndrome type 1Ramsay Hunt syndrome type 1 (formerly)Spinodentate atrophycerebelloparenchymal disorder 5cerebelloparenchymal disorder Vdentate cerebellar ataxiadentatorubral atrophydyssynergia cerebellaris myoclonica of Huntdyssynergia cerebellaris progressivaprimary dentatum atrophyprogressive myoclonus ataxia

Definition

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)