Writer's cramp in an Australian pedigree with DYT1 dystonia

Mehdi Van Den Bos, Rosetta Marotta, Sandra Goldup, Tim Chataway, Frank Firgaira, Dominic Thyagarajan

Research output: Contribution to journalArticleResearchpeer-review

6 Citations (Scopus)

Abstract

Oppenheim's or DYT1 dystonia is a primary dystonia typically presenting in a limb at an early age and usually becoming generalised within 5 years. Over the last decade research into this debilitating disorder has progressed considerably, enabling the identification of a genetic lesion (a 3bp deletion in the DYT1 gene) now widely accepted as the cause of a majority of cases. This case report presents the first molecularly diagnosed pedigree of an Australian family with DYT1 dystonia, which presented as writer's cramp in the 15-year-old proband and two of his cousins.

Original languageEnglish
Pages (from-to)537-539
Number of pages3
JournalJournal of Clinical Neuroscience
Volume11
Issue number5
DOIs
Publication statusPublished - Jun 2004
Externally publishedYes

Keywords

  • DYT1 dystonia
  • molecular genetics
  • primary torsion dystonia
  • writer's cramp

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