" /> Certain specified neuromuscular junction disorder - CISMeF





Preferred Label : Certain specified neuromuscular junction disorder;

ICD-11 definition : Neuromuscular junction disorders result from damage, malfunction or absence of one or more key proteins involved in neuromuscular transmission. The most common pathology is antibody-mediated lesion or down regulation of ion channels or receptors, resulting in myasthenia gravis, Lambert-Eaton myasthenic syndrome, and acquired neuromyotonia (or Isaac's syndrome). A second important group of disorders are the congenital myasthenic syndromes caused by mutations in neuromuscular junction proteins.;

ICD-11 synonym : neuromyopathy; disease of neuromuscular system; myoneural disease; disorder of neuromuscular system; combined disorder of muscle and peripheral nerve; myoneural disorder; neuromuscular disorder;

ICD-11 inclusion : neuromuscular system disease;

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Neuromuscular junction disorders result from damage, malfunction or absence of one or more key proteins involved in neuromuscular transmission. The most common pathology is antibody-mediated lesion or down regulation of ion channels or receptors, resulting in myasthenia gravis, Lambert-Eaton myasthenic syndrome, and acquired neuromyotonia (or Isaac's syndrome). A second important group of disorders are the congenital myasthenic syndromes caused by mutations in neuromuscular junction proteins.

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29/07/2025


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