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Descriptor English: Dystonia Musculorum Deformans
Descriptor Spanish: Distonía Muscular Deformante
Descriptor distonía muscular deformante
Entry term(s) distonía de torsión
distonía idiopática por torsión
enfermedad de Oppenheim-Ziehen
enfermedad por torsión de la infancia
espasmo por torsión progresivo
Scope note: Afección caracterizada por DISTONÍA focal que progresa a contracciones involuntarias espasmódicas de los músculos de las piernas, tronco, brazos y cara. Con frecuencia se exceptúan las manos; sin embargo, las contracciones sostenidas axiales y en las extremidades pueden producir un estado en el cual el cuerpo se contorsiona totalmente. El inicio suele darse en la primera o segunda década de la vida. Se han identificado patrones familiares de herencia, que principalmente es autosómica dominante con penetración incompleta. (Adams et al., Principles of Neurology, 6th ed, p1078)
Descriptor Portuguese: Distonia Muscular Deformante
Descriptor French: Dystonie musculaire déformante
Entry term(s): Childhood Torsion Disease
Dystonia Deformans Musculorum
Dystonia Deformans Progressiva
Dystonia, Idiopathic Torsion
Dystonias, Idiopathic Torsion
Dystonias, Torsion
Idiopathic Torsion Dystonia
Idiopathic Torsion Dystonias
Oppenheim Ziehen Disease
Oppenheim-Ziehen Disease
Progressive Torsion Spasm
Spasm, Progressive Torsion
Torsion Disease of Childhood
Torsion Disease, Childhood
Torsion Dystonia
Torsion Dystonia, Idiopathic
Torsion Spasm, Progressive
Tree number(s): C10.228.140.079.357
C10.228.662.300.200
C10.574.500.393
C16.320.400.330
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D004422
Scope note: 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)
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CN congenital
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Related: Dystonia MeSH
DeCS ID: 4485
Unique ID: D004422
NLM Classification: WL 390
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1966/01/01
Date of Entry: 1999/01/01
Revision Date: 2013/07/08
Dystonia Musculorum Deformans - Preferred
Concept UI M0006936
Scope note 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)
Preferred term Dystonia Musculorum Deformans
Entry term(s) Childhood Torsion Disease
Dystonia Deformans Musculorum
Dystonia Deformans Progressiva
Dystonia, Idiopathic Torsion
Dystonias, Idiopathic Torsion
Dystonias, Torsion
Idiopathic Torsion Dystonia
Idiopathic Torsion Dystonias
Oppenheim Ziehen Disease
Oppenheim-Ziehen Disease
Progressive Torsion Spasm
Spasm, Progressive Torsion
Torsion Disease of Childhood
Torsion Disease, Childhood
Torsion Dystonia
Torsion Dystonia, Idiopathic
Torsion Spasm, Progressive



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