Ett sjukdomstillstånd kännetecknat av fokal dystoni, som utvecklas till ofrivilliga, krampaktiga muskelsammandragningar i ben, bål, armar och ansikte. Händerna drabbas ofta inte, men långvariga sammandragningar i axialmusklerna och lemmarnas muskler kan förvrida kroppen svårt. Debuten äger oftast rum före 20-årsåldern. Ett familjärt, autosomalt dominant, ärftlighetsmönster har påvisats. Syn. deformerande muskeldystoni.
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)
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Dystonia Deformans Musculorum — Dystonia Deformans Progressiva — Torsion Dystonia — Dystonias, Torsion — Oppenheim-Ziehen Disease — Oppenheim Ziehen Disease — Progressive Torsion Spasm — Spasm, Progressive Torsion — Torsion Spasm, Progressive — Torsion Disease of Childhood — Childhood Torsion Disease — Torsion Disease, Childhood — Idiopathic Torsion Dystonia — Dystonia, Idiopathic Torsion — Dystonias, Idiopathic Torsion — Idiopathic Torsion Dystonias — Torsion Dystonia, Idiopathic