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Disorders of the neuromuscular junction 

Disorders of the neuromuscular junction

Chapter:
Disorders of the neuromuscular junction
Author(s):

David Hilton-Jones

and Jacqueline Palace

DOI:
10.1093/med/9780199204854.003.2423_update_002

July 30, 2015: This chapter has been re-evaluated and remains up-to-date. No changes have been necessary.

Update:

Identification of low-affinity antibodies in acquired myasthenia gravis aids diagnosis.

Possibility of newly identified antibody targets in myasthenia.

Move towards keyhole surgery for thymectomy rather than conventional sternal-splitting surgery.

Advice with respect to drug therapy in pregnancy.

Update on congenital myasthenic syndromes.

Further reading added.

Updated on 28 Nov 2012. The previous version of this content can be found here.
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date: 22 July 2017

Two fundamentally different pathological processes are associated with disease at the neuromuscular junction: (1) acquired disorders in which autoantibodies are directed against nerve or muscle receptor or ion channels; (2) rare inherited conditions in which the defect may be pre- or postsynaptic.

Aetiology and epidemiology—the fundamental disorder is loss of functional acetylcholine receptors most frequently as a result of binding of anti-acetylcholine receptor (anti-AChR) antibodies. Incidence is about 10 per million population and prevalence about 8 per 100 000, with a marked female bias in cases aged under 40 years and male preponderance in those over 50 years. Thymomas occur in about 10% of cases....

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