Autosomal recessive, DYT2-like primary torsion dystonia: a new family.
case_report · Level V
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Abstract
The authors report the clinical characteristics of a Sephardic Jewish kindred with autosomal recessive DYT2-like primary torsion dystonia. Three siblings had childhood onset of limb dystonia, and slow progression to generalized dystonia with predominant cranio-cervical involvement. There were no other abnormal signs, apart from dystonia and jerky tremor over a 12-year follow-up. All investigations for other causes of primary and secondary dystonia had normal results.
Medical subject headings
- Dystonia Musculorum Deformans
- Molecular Chaperones