autosomal dominant cerebellar ataxia
A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy. [ https://orcid.org/0000-0001-5208-3432 ]
Term info
autosomal dominant cerebellar ataxia
- ADCA
- autosomal dominant spinocerebellar ataxia
- cerebellar ataxia, autosomal dominant
gard_rare, disease_grouping, ordo_group_of_disorders
http://linkedlifedata.com/resource/umls/id/CN227858, http://purl.obolibrary.org/obo/DOID_1441, http://identifiers.org/snomedct/129609000, https://omim.org/phenotypicSeries/PS164400, http://purl.obolibrary.org/obo/Orphanet_99
http://purl.obolibrary.org/obo/MONDO_0015368, http://purl.obolibrary.org/obo/MONDO_0100309, http://purl.obolibrary.org/obo/MONDO_0000437
SCA, spinocerebellar ataxia
Pierre Marie cerebellar ataxia (formerly)
MONDO:0020380
https://icd.codes/icd10cm/G11.8
https://github.com/monarch-initiative/mondo/pull/2571/