loading...| Preferred Name |
Machado-Joseph Disease |
|
| Synonyms |
Joseph Azorean Disease|Machado-Joseph Azorean Disease|Spinocerebellar Ataxia Type 3|Joseph Disease|Autosomal Dominant Striatonigral Degeneration|Nervous System Azorean Disease |
|
| ID |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12650 |
|
| abbrev | ||
| class_or_indiv |
true |
|
| 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 (MeSH). |
|
| external_id_urls |
http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?field=uid&term=D017827 |
|
| external_ids |
meshUID:D017827 |
|
| label |
Machado-Joseph Disease |
|
| mod_date |
2007-10-05 |
|
| preferred_label |
Machado-Joseph Disease |
|
| prefixIRI |
birnlex_12650 |
|
| retired |
false |
|
| synonyms |
Joseph Azorean Disease|Machado-Joseph Azorean Disease|Spinocerebellar Ataxia Type 3|Joseph Disease|Autosomal Dominant Striatonigral Degeneration|Nervous System Azorean Disease |
|
| subClassOf |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12648 |