Article
[DYT1 positive generalised dystonia: a case study of two siblings].
Ideggyogyaszati szemle - 30 Jul 2007
Bereznai Benjámin, Baraczka Krisztina, Nagy Zoltán, Molnár Mária Judit
Abstract excerpt
The early-onset generalised dystonia is a dyskinetic movement disorder with a wide variety in phenotype and poor response to pharmacological treatment. A mutation on the DYT1 gene is responsible for the disease in more than 50% of cases with typical early-onset dystonia beginning in a limb. We describe the medical history of two brothers with first signs of focal dystonia at age 12 starting with right side lower...
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