Svensk definition
Ett sjukdomstillstånd med fortskridande cerebellär ataxi (störning i muskelsamordningen pga skada i lillhjärnan) i kombination med myoklonus (krampaktig muskelspänning) som vanligtvis visar sig efter 30-årsåldern. Andra kliniska drag kan vara utbredda eller fokala krampanfall, spasmer och dyskinesier (rörelsesvårigheter). Både autosomalt recessiva och autosomalt dominanta ärftlighetsmönster har rapporterats. Patologiskt ses atrofi i lillhjärnans nucleus dentatus och brachium conjunctivum, med varierande grad av symtom från ryggmärgen, lillhjärnebarken och de basala ganglierna.
Engelsk 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)
Svenska synonymer
Ramsey Hunt cerebellärt syndrom
Engelska synonymer
Cerebellar Dyssynergia, Myoclonic — Cerebellar Dyssynergias, Myoclonic — Dyssynergia, Myoclonic Cerebellar — Dyssynergias, Myoclonic Cerebellar — Myoclonic Cerebellar Dyssynergias — Dentate Cerebellar Atrophy — Atrophies, Dentate Cerebellar — Atrophy, Dentate Cerebellar — Cerebellar Atrophy, Dentate — Dentate Cerebellar Atrophies — Dentate Nucleus Syndrome, Ramsay Hunt — Dyssynergia Cerebellaris Myoclonica — Dyssynergia Cerebellaris Progressiva — Ramsay Hunt Cerebellar Syndrome — Ramsay Hunt Dentate Syndrome — Dentate Cerebellar Ataxia — Ataxia, Dentate Cerebellar — Ataxias, Dentate Cerebellar — Cerebellar Ataxias, Dentate — Dentate Cerebellar Ataxias — Cerebellar Dyssynergia — Cerebellar Dyssynergias — Dyssynergia, Cerebellar — Dyssynergias, Cerebellar — Cerebelloparenchymal Disorder V — Dyssynergia Cerebellaris Myoclonica Of Hunt — Spinodentate Atrophy