Next-generation sequencing improved diagnostic rates for congenital myopathies and muscular dystrophies, identifying genetic variants in 68% of patients analyzed.
Congenital myopathies (CMYOs) and congenital muscular dystrophies (CMDs) are rare, clinically and genetically heterogeneous neuromuscular conditions characterized by muscle weakness, usually with onset at birth or in the first few months of life. Next-generation sequencing (NGS) has significantly enhanced diagnostic capabilities and transformed the diagnostic process for such rare conditions. The aim of this study was to describe the outcomes of NGS analysis and genotypic prevalence among patients with CMYO and CMD referred for diagnostic assessment to the National Highly Specialized Service (HSS) at the Dubowitz Neuromuscular Centre in London, United Kingdom, over a period of 10 years.
Cicala et al. (2026) studied this question. Next-generation sequencing improved diagnostic rates for congenital myopathies and muscular dystrophies, identifying genetic variants in 68% of patients analyzed.