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Neuromuscular junction disorders: mimics and chameleons
  1. Shadi El-Wahsh1,2,
  2. Clare Fraser1,3,
  3. Steve Vucic1,2,
  4. Stephen Reddel2,4
  1. 1Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia
  2. 2Neurology Department, Concord Hospital, Concord, New South Wales, Australia
  3. 3Save Sight Institute, The University of Sydney, Sydney, New South Wales, Australia
  4. 4Brain and Mind Centre, The University of Sydney, Camperdown, New South Wales, Australia
  1. Correspondence to Dr Shadi El-Wahsh, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2050, Australia; shadi.el-wahsh{at}nhs.net

Abstract

Neuromuscular junction (NMJ) disorders represent a heterogenous group of acquired and congenital disorders that present in variable and distinctive ways. The diagnosis is typically reached through a combination of clinical, serological, pharmacological and electrophysiological evaluation. While the diagnosis can be fairly straightforward in some cases, the overlap with other neurological disorders can make diagnosis challenging, particularly in pure ocular presentations and in seronegative patients. The over-reliance on serological tests and electrophysiological evaluation in isolation can lead to misdiagnosis. In this article, we provide an overview of the NMJ disorders, discuss red flags for the key differential diagnoses (mimics) and report the atypical ways in which NMJ disorders may present (chameleons).

  • MYASTHENIA
  • NEUROMUSCULAR
  • NEUROPHYSIOL, CLINICAL
  • NEUROGENETICS
  • NEUROIMMUNOLOGY

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Footnotes

  • Contributors SE-W and SR were responsible for manuscript conceptualisation; SE-W wrote the first draft; SE-W and SR wrote the case vignettes; SR, CF and SV revised the manuscript. SR is the guarantor for this paper.

  • Funding SE-W is supported by an Australian Government Research Training Program (RTP) Scholarship.

  • Competing interests None declared.

  • Provenance and peer review Commissioned. Externally peer reviewed by Jon Walters, Swansea, UK.