Certain specified congenital or developmental myasthenia (Q92773): Difference between revisions

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Latest revision as of 07:54, 16 August 2026

Congenital or developmental myasthenic syndromes are a rare heterogeneous group of inherited neuromuscular disorders characterised by compromised neuromuscular transmission. They are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defect’s location within the neuromuscular junction. The genetic defects either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission.

Language	Label	Description	Also known as
default for all languages	ID_1039514197
English	Certain specified congenital or developmental myasthenia	Congenital or developmental myasthenic syndromes are a rare heterogeneous group of inherited neuromuscular disorders characterised by compromised neuromuscular transmission. They are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defect’s location within the neuromuscular junction. The genetic defects either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission.