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Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis
  1. Gillian Ingram1,
  2. Katy E S Barwick2,
  3. Louise Hartley3,
  4. Meriel McEntagart2,
  5. Andrew H Crosby2,
  6. Gareth Llewelyn1,
  7. Huw R Morris4
  1. 1Department of Neurology, University Hospital of Wales, Cardiff, UK
  2. 2Department of Neurology, St George's, University of London, London, UK
  3. 3Department of Paediatrics, University Hospital of Wales, Cardiff, UK
  4. 4Department of Neurology, UCL Institute of Neurology, London, UK
  1. Correspondence to Dr Gillian Ingram, Department of Neurology, University Hospital of Wales, Cardiff CF14 4XW, UK; Ingramg1{at}cardiff.ac.uk

Abstract

Patients presenting with distal weakness can be a diagnostic challenge; the eventual diagnosis often depends upon accurate clinical phenotyping. We present a mother and daughter with a rare form of distal hereditary motor neuropathy type 7 in whom the diagnosis became apparent by initial difficulty in singing, from early vocal cord dysfunction. This rare neuropathy has now been identified in two apparently unrelated families in Wales. This family's clinical presentation is typical of distal hereditary motor neuropathy type 7, and they have the common truncating mutation in the SLC5A7 gene. Advances in genetic analysis of these rare conditions broaden our understanding of their potential molecular mechanisms and may allow more directed therapy.

  • SPINAL MUSCULAR ATRO
  • GENETICS
  • NEUROPATHY
  • HMSN (CHARCOT-MARIE-TOOTH)

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