Preferred Label : Machado-Joseph disease;
Definition : A dominantly-inherited ataxia first described in people of Azorean and Portuguese
descent, and subsequently identified in Brazil, Japan, China, and Australia. This
disorder is classified as one of the SPINOCEREBELLAR ataxiaS (Type 3) and has been
associated with a mutation of the mjd1 gene on chromosome 14. Clinical features include
progressive ataxia, dysarthria, postural instability, nystagmus, eyelid retraction,
and facial fasciculations. dystonia is prominent in younger patients (referred to
as Type i machado-Joseph Disease). Type II features ataxia and ocular signs; Type
iii features muscular atrophy and a sensorimotor neuropathy; and Type IV features
extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci
1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96) [MeSH];
UMLS CUI (RADLEX) : C0024408;
Origin ID : RID5157;
UMLS CUI : C0024408;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
A dominantly-inherited ataxia first described in people of Azorean and Portuguese
descent, and subsequently identified in Brazil, Japan, China, and Australia. This
disorder is classified as one of the SPINOCEREBELLAR ataxiaS (Type 3) and has been
associated with a mutation of the mjd1 gene on chromosome 14. Clinical features include
progressive ataxia, dysarthria, postural instability, nystagmus, eyelid retraction,
and facial fasciculations. dystonia is prominent in younger patients (referred to
as Type i machado-Joseph Disease). Type II features ataxia and ocular signs; Type
iii features muscular atrophy and a sensorimotor neuropathy; and Type IV features
extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci
1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96) [MeSH]
