Preferred Label : Spinocerebellar ataxia type 29;
ICD-11 definition : Spinocerebellar ataxia type 29 is a very rare subtype of autosomal dominant cerebellar
ataxia type 3 characterized by the onset during infancy of very slowly progressive
or non-progressive ataxia, dysarthria, nystagmus, dysdiadochokinesia, dystonia, dysmetria
and intelectual disability. The causal gene is not yet identified but is located on
chromosome 3p and due to its close proximity to the SCA15 gene, i ITPR1 /i , it is
thought that both diseases may be allelic.;
Origin ID : 359640365;
UMLS CUI : C1861732;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Spinocerebellar ataxia type 29 is a very rare subtype of autosomal dominant cerebellar
ataxia type 3 characterized by the onset during infancy of very slowly progressive
or non-progressive ataxia, dysarthria, nystagmus, dysdiadochokinesia, dystonia, dysmetria
and intelectual disability. The causal gene is not yet identified but is located on
chromosome 3p and due to its close proximity to the SCA15 gene, i ITPR1 /i , it is
thought that both diseases may be allelic.
