Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol.
case_report · Level V
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Abstract
The gene causing early-onset torsion dystonia (DYT1) has recently been identified, and two new dystonia genes, one for adult-onset focal dystonia (DYT7) and one for a mixed dystonia phenotype (DYT6), have been mapped. We evaluated clinically a family from South Tyrol (Northern Italy) with 6 definitely affected individuals who display an unusually large phenotypic range of dystonic symptoms. We excluded the GAG deletion in the DYT1 gene and linkage to any of the above-mentioned dystonia loci, thus suggesting an as yet undefined dystonia gene in our family.
Medical subject headings
- Dystonia Musculorum Deformans