loading...| Preferred Name |
Dystonia Musculorum Deformans [Disease/Finding] |
|
| Synonyms |
Dystonia Deformans Progressiva Dystonia Deformans Musculorum Torsion Disease of Childhood Torsion Dystonia Dystonia Musculorum Deformans Idiopathic Torsion Dystonia Oppenheim-Ziehen Disease Childhood Torsion Disease Progressive Torsion Spasm |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001034 |
|
| altLabel |
Dystonia Deformans Progressiva Dystonia Deformans Musculorum Torsion Disease of Childhood Torsion Dystonia Dystonia Musculorum Deformans Idiopathic Torsion Dystonia Oppenheim-Ziehen Disease Childhood Torsion Disease Progressive Torsion Spasm |
|
| cui |
C0013423 |
|
| MESH DEFINITION |
A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078) |
|
| MESH DUI |
D004422 |
|
| MeSH name |
Dystonia Musculorum Deformans |
|
| MESH UI |
M0006936 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001034 |
|
| NUI |
N0000001034 |
|
| prefLabel |
Dystonia Musculorum Deformans [Disease/Finding] |
|
| SNOMED CID |
52274002 22451001 |
|
| tui |
T047 |
|
| subClassOf |