Congenital myasthenic syndrome: a brief review

Pediatric Neurology
Paulo José LorenzoniLineu Cesar Werneck

Abstract

Congenital myasthenic syndromes comprise heterogeneous genetic diseases characterized by compromised neuromuscular transmission. Congenital myasthenic syndromes are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defect's location within the neuromuscular junction. Presynaptic forms are the rarest, affecting an estimated 7-8% of patients; synaptic forms account for approximately 14-15% of patients; and the remaining 75-80% are attributable to postsynaptic defects. Clinical manifestations vary by congenital myasthenic syndrome subtype. Electrophysiologic, morphologic, and molecular descriptions of various forms of congenital myasthenic syndromes have led to an enhanced understanding of clinical manifestations and disease pathophysiology. Although congenital myasthenic syndromes are indicated by clinical manifestations, family history, electrophysiologic studies, and responses to acetylcholinesterase inhibitors, overlap in some presentations occurs. Therefore, genetic testing may be necessary to identify specific mutations in CHAT, COLQ, LAMB2, CHRNA, CHRNB, CHRND, CHRNE, CHRNG, RAPSN, DOK7, MUSK, AGRN, SCN4A, GFPT1, or PLEC1 genes. The identification of congenital myasthenic syndromes subtypes will...Continue Reading

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Citations

Feb 26, 2013·Brain : a Journal of Neurology·Henry Houlden
Jun 25, 2013·Journal of the Neurological Sciences·Paulo J LorenzoniLineu C Werneck
Oct 24, 2012·Chemico-biological Interactions·Jennifer KarmouchClaire Legay
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Dec 6, 2020·Neurology·Brian D Stephens, Min K Kang
Sep 24, 2021·Molecular Biology Reports·Rochdi KhaoulaMartin Krahn

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