Disease Information for Dystonia musculorum deformans: Definition

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  • ; 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 pentrance, have been identified -------------(Adams et al, Principles of Neurology, 6th ed, p1078)----------------

    Primary dystonia accounts for 90% of cases of Dystonia; Known Hereditary genetic basis for Most of those; Usually called Dystonia mucularis deformans hereditary but Hereditary Dystonia Dystonia otherwise; Primary dystonias with onset in childhood have previously been termed dystonia musculorum deformans; Childhood-onset dystonias are often inherited, usually in an autosomal dominant pattern; about half of adult-onset cases seem to have a genetic basis; Other members of the family may have only partial manifestations, such as clubfoot, scoliosis, torticollis, writer"s cramp, bruxism, or essential tremor; Genetic dystonia seems to have a higher prevalence among Ashkenazi Jews, but dystonias in both Jewish and non-Jewish individuals have been linked to a marker in the q32-q34 region of chromosome 9;

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