JSON

myoclonic cerebellar dyssynergia

^ http://purl.obolibrary.org/obo/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) [ MESH:D002527 ]

Term info

database cross reference
  • UMLS:C0007761 (MONDO:ncbi_mim2gene_medline)
  • OMIM:159700 (MONDO:equivalentObsolete)
  • DOID:12707 (MONDO:equivalentTo)
  • UMLS:C1834580 (OMIM:159700)
  • OMIM:213400 (MONDO:equivalentTo)
  • MESH:D002527 (MONDO:equivalentTo)
  • GARD:0009256 (MONDO:equivalentTo)
  • SCTID:73495003 (MONDO:equivalentTo)
  • EFO:1001053 (MONDO:equivalentTo)
Subsets

speculative

A synonym that is historic and discouraged
Ramsay Hunt syndrome [ Wikipedia:Ramsay_Hunt_syndrome OMIM:159700 ]

abbreviation
CPD5 [ MONDO:Lexical OMIM:213400 ]

A synonym that is historic and discouraged
Ramsay Hunt syndrome type 1 [ OMIM:159700 Wikipedia:Ramsay_Hunt_syndrome ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4429

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)

exactMatch

http://purl.obolibrary.org/obo/DOID_12707, http://identifiers.org/snomedct/73495003, https://omim.org/entry/213400, http://linkedlifedata.com/resource/umls/id/C0007761, http://linkedlifedata.com/resource/umls/id/C1834580, http://identifiers.org/mesh/D002527

has exact synonym

myoclonus and ataxia, dyssynergia cerebellaris myoclonica, cerebelloparenchymal disorder type 5, progressive cerebellar tremor

has related synonym

CPD5, Ramsay Hunt syndrome, dentatorubral atrophy, Ramsay Hunt cerebellar syndrome, primary dentatum atrophy, dyssynergia cerebellaris progressiva, Ramsay Hunt syndrome type 1, cerebelloparenchymal disorder V, cerebelloparenchymal disorder 5, dyssynergia cerebellaris myoclonica of Hunt, dentate cerebellar ataxia, Spinodentate atrophy, Ramsay Hunt syndrome type 1 (formerly), progressive myoclonus ataxia

id

MONDO:0008945