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J Neurol Neurosurg Psychiatry 81:358-367 doi:10.1136/jnnp.2008.158261
  • Review

The myotonic dystrophies: diagnosis and management

Editor's Choice
  1. David Hilton-Jones2
  1. 1Department of Neurology, National Hospital for Neurology and Neurosurgery, London, UK
  2. 2Department of Clinical Neurology, The Radcliffe Infirmary, Oxford, UK
  1. Correspondence to Dr C Turner, Department of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; chris.turner{at}uclh.nhs.uk
  • Received 1 December 2008
  • Accepted 18 December 2008
  • Published Online First 22 February 2010

Abstract

There are currently two clinically and molecularly defined forms of myotonic dystrophy: (1) myotonic dystrophy type 1 (DM1), also known as ‘Steinert’s disease'; and (2) myotonic dystrophy type 2 (DM2), also known as proximal myotonic myopathy. DM1 and DM2 are progressive multisystem genetic disorders with several clinical and genetic features in common. DM1 is the most common form of adult onset muscular dystrophy whereas DM2 tends to have a milder phenotype with later onset of symptoms and is rarer than DM1. This review will focus on the clinical features, diagnosis and management of DM1 and DM2 and will briefly discuss the recent advances in the understanding of the molecular pathogenesis of these diseases with particular reference to new treatments using gene therapy.

Footnotes

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Commissioned; externally peer reviewed.

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