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Myasthenia Gravis and Related Disorders pp 251–274Cite as

Congenital Myasthenic Syndromes

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Part of the book series: Current Clinical Neurology ((CCNEU))

Abstract

The congenital myasthenic syndromes (CMS) are rare hereditary disorders of neuromuscular transmission. They are characterized by fatiguable fluctuating muscle weakness that can vary in severity. Diagnosis is important since these are treatable conditions, and appropriate medication and interventions may avert life-threatening respiratory crises that occur in some syndromes. The advent of next-generation sequencing has facilitated the discovery of many genes that harbor CMS-associated mutations. Up to 30 different genes may be involved. These may encode proteins directly involved in signal transmission or in controlling the formation and maintenance of the neuromuscular synapse, and the severity of the disorders can vary from fatality in utero or the neonatal period to near-asymptomatic weakness. Recent findings show that many genes whose functions are not restricted to the neuromuscular junction can also cause myasthenic weakness, such as genes involved in protein glycosylation pathways or neurotransmitter release. In some of the more recently identified syndromes, the myasthenic weakness is only one component of a more complex phenotypic spectrum, which introduces additional challenges in patient treatment.

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  1. Nuffield Department of Clinical Neurosciences, University of Oxford, Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliffe Hospital, Oxford, UK

    David Beeson PhD

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  1. Department of Neurology, George Washington University, Washington, DC, USA

    Henry J. Kaminski

  2. Department of Pharmacology and Physiology, George Washington University, Washington, DC, USA

    Linda L. Kusner

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Beeson, D. (2018). Congenital Myasthenic Syndromes. In: Kaminski, H., Kusner, L. (eds) Myasthenia Gravis and Related Disorders. Current Clinical Neurology. Humana Press, Cham. https://doi.org/10.1007/978-3-319-73585-6_16

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