early-onset torsion dystonia

early-onset torsion dystonia
any of several forms of generalized dystonia resulting from a mutation in DYT genes that code for torsinA; the usual type is caused by mutations in the DYT1 gene (locus: 9q34), is inherited as an autosomal dominant trait, and affects Ashkenazi Jews more commonly than other groups. It appears before the end of the third decade of life, often in childhood, beginning as an action dystonia in an arm or leg and spreading to affect the trunk and other limbs; when generalized, it results in severe disability. There are several other rare types that are apparently caused by mutations in other DYT genes. Called also early-onset d., early childhood–onset d., and Oppenheim d.

Medical dictionary. 2011.

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