Article Text
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
Data availability statement
No data are available. Not applicable.
Statistics from Altmetric.com
Data availability statement
No data are available. Not applicable.
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.