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19 results

  • The Value of Collaboration in Improving Knowledge on Rare Diseases

  • Kate Bushby
  • Journal: Canadian Journal of Neurological Sciences / Volume 38 / Issue 3 / May 2011
  • Published online by Cambridge University Press: 02 December 2014, p. 387
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  • Chapter 11 - The muscular dystrophies

  • Nicholas Wood
  • Book: Neurogenetics
  • Published online: 05 May 2012
  • Print publication: 12 April 2012, pp 148-165

  • Summary

    The Huntington's disease (HD) locus was one of the first disease associated loci to be mapped using restriction fragment length polymorphisms. The prevalence of HD in populations of Western European descent is usually given as approximately 4-10 per 100,000. HD onset has been described as between the ages of 2 and 87 years. HD can produce a wide range of phenotypic presentations and, as the disease progresses, the signs and symptoms often change. The most well recognized neuropathological classification is the Vonsattel grade. The HD predictive testing guidelines recommend that individuals at risk are seen for two to four counseling sessions spread over a three-month period, before disclosure of the test results. Diagnostic testing for HD usually is undertaken by neurologists when patients present with the neurological signs and symptoms of the disease. Currently, there are several large clinical trials ongoing, including high-dose creatine, coenzyme Q10, and memantine.

Disorders of Voluntary Muscle
  • 8th edition
  • George Karpati
  • Edited by David Hilton-Jones, Kate Bushby, Robert C. Griggs
  • Published online: 26 February 2010
  • Print publication: 21 January 2010
  • This major new edition fulfils the need for a single-volume, up-to-date information resource on the etiology, pathogenesis, diagnosis and treatment of diseases of skeletal muscles, including the muscular dystrophies, mitochondrial myopathies, metabolic myopathies, ion channel disorders, and dysimmune myopathies. As background to the clinical coverage, relevant information on advances in molecular and developmental biology, immunopathology, mitochondrial biology, ion-channel dynamics, cell membrane and signal transduction science, and imaging technology is summarized. Combining essential new knowledge with the fundamentals of history-taking and clinical examination, this extensively illustrated book will continue to be the mainstay for practising physicians and biomedical scientists concerned with muscle disease. Regular updates on the clinical and basic science aspects of muscle disease - written mainly by rising stars of myology - will be published on an accompanying website.

  • Genetics and the muscular dystrophies

  • Kate Bushby
  • Journal: Developmental Medicine and Child Neurology / Volume 42 / Issue 11 / November 2000
  • Published online by Cambridge University Press: 16 November 2000, pp. 780-784
  • Print publication: November 2000

  • Muscular dystrophy classification and diagnosis has been transformed over the 13 or so years since the cloning of the dystrophin gene (involved in Duchenne and Becker muscular dystrophy). A child or adult presenting with a muscular dystrophy can now expect a precise diagnosis. Precision of diagnosis brings with it improved information for the patient and their family in terms of genetic counselling and prognostic advice. Unfortunately precision of diagnosis still fails to be matched by the availability of curative treatments, though a greater understanding of the various subtypes of muscular dystrophy does means that more specific management can be planned. The purpose of this annotation will be to address the various subtypes of muscular dystrophy encountered particularly in childhood within the context of diagnostic standards and related molecular information which enhance the investigation and management of individuals with muscular dystrophy.