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Clinical Variability and Genotype‐Driven Outcomes in CHRND‐Related Congenital Myasthenic Syndrome

D. Muhmann G. Haliloglu M. A. Grimalt Damjan Osredkar Ana Vesperinas Castro S. C. Corredera A. Abicht A. Yıldız J. Böhm U. Schara-Schmidt A. T. Gergeli B. Estévez-Arias E. C. Vicente A. Nascimento A. Della Marina D. Benito Andreas Roos
Aug 2026 · European Journal of Neurology · Vol 33 · 0 citations · 19 references
Medicine

TL;DR

Comprehensive genetic testing, longitudinal phenotyping, and genotype‐informed management are essential for optimal diagnosis and care in this rare disorder and underscores the critical role of genotype in determining disease severity.

Abstract

Congenital myasthenic syndromes (CMS) caused by pathogenic variants in CHRND, encoding the δ‐subunit of the nicotinic acetylcholine receptor (AChR), are rare, and data on genotype–phenotype correlations and long‐term outcomes are limited.

DOI PubMed Semantic Scholar
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