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loading...| Preferred Name |
Dystonia 12 |
| Synonyms |
Rapid-Onset Dystonia Parkinsonism |
| ID |
http://purl.bioontology.org/ontology/MESH/C538001 |
| altLabel |
Rapid-Onset Dystonia Parkinsonism Dyt12 Dystonia-Parkinsonism, Rapid-Onset Rapid-onset dystonia-parkinsonism |
| cui |
C1868681 |
| HM |
D020821 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
43 |
| MMR |
20150818 |
| notation |
C538001 |
| prefLabel |
Dystonia 12 |
| SC |
3 |
| Scope Statement |
A hereditary autosomal dominant disorder characterized by abrupt onset of asymmetric dystonia and parkinsonism in young adulthood, often after a trigger such as physical overexertion, trauma, heat, or fever. Affected individuals also show slowly progressive nonparoxysmal neurologic deterioration in a rostrocaudal gradient with prominent bulbar dysfunction. Mutations in the ATP1A3 gene have been identified. OMIM: 128235 |
| TERMUI |
T744419 T809243 T744417 T842372 T842373 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
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