loading...| Preferred Name | Dystonia Musculorum Deformans | |
| Synonyms |
Dystonia Deformans Progressiva Dystonias, Idiopathic Torsion Torsion Dystonia, Idiopathic Dystonia Deformans Musculorum Torsion Disease, Childhood Torsion Disease of Childhood Torsion Spasm, Progressive Torsion Dystonia Spasm, Progressive Torsion Idiopathic Torsion Dystonia Dystonias, Torsion Idiopathic Torsion Dystonias Dystonia, Idiopathic Torsion Oppenheim-Ziehen Disease Childhood Torsion Disease Progressive Torsion Spasm Oppenheim Ziehen Disease |
|
| Definitions |
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) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D004422 |
|
| altLabel |
Dystonia Deformans Progressiva Dystonias, Idiopathic Torsion Torsion Dystonia, Idiopathic Dystonia Deformans Musculorum Torsion Disease, Childhood Torsion Disease of Childhood Torsion Spasm, Progressive Torsion Dystonia Spasm, Progressive Torsion Idiopathic Torsion Dystonia Dystonias, Torsion Idiopathic Torsion Dystonias Dystonia, Idiopathic Torsion Oppenheim-Ziehen Disease Childhood Torsion Disease Progressive Torsion Spasm Oppenheim Ziehen Disease |
|
| AQL |
BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0013423 |
|
| DC |
1 |
|
| 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) |
|
| DX |
19660101 |
|
| FX |
D004421 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C536698 http://purl.bioontology.org/ontology/MESH/C538004 http://purl.bioontology.org/ontology/MESH/C538002 http://purl.bioontology.org/ontology/MESH/C538003 |
|
| MDA |
19990101 |
|
| MMR |
20130708 |
|
| MN |
C16.320.400.330 C10.574.500.393 C10.228.140.079.357 C10.228.662.300.200 |
|
| notation |
D004422 |
|
| prefLabel |
Dystonia Musculorum Deformans |
|
| TERMUI |
T364115 T364118 T364117 T013484 T013485 T013486 T364116 T364120 T364119 |
|
| TH |
NLM (2000) NLM (1966) UNK (19XX) GHR (2014) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D020821 |