loading...| Preferred Name |
Dystonia Musculorum Deformans |
| Synonyms |
Torsion Dystonia, Idiopathic |
| 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 |
Torsion Dystonia, Idiopathic Childhood Torsion Disease Idiopathic Torsion Dystonias Torsion Spasm, Progressive Dystonias, Torsion Dystonias, Idiopathic Torsion Dystonia Deformans Musculorum Dystonia, Idiopathic Torsion Torsion Disease, Childhood Dystonia Deformans Progressiva Torsion Disease of Childhood Torsion Dystonia Progressive Torsion Spasm Oppenheim-Ziehen Disease Idiopathic Torsion Dystonia Spasm, Progressive Torsion 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/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C538004 http://purl.bioontology.org/ontology/MESH/C536698 http://purl.bioontology.org/ontology/MESH/C538006 http://purl.bioontology.org/ontology/MESH/C538003 |
| MDA |
19990101 |
| MMR |
20130708 |
| MN |
C10.228.140.079.357 C16.320.400.330 C10.228.662.300.200 C10.574.500.393 |
| notation |
D004422 |
| prefLabel |
Dystonia Musculorum Deformans |
| TERMUI |
T364119 T364120 T013485 T364117 T013484 T364116 T013486 T364118 T364115 |
| TH |
UNK (19XX) NLM (2000) NLM (1966) GHR (2014) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D020821 |