Key result
In a cohort of 56 Chinese patients with infancy-onset congenital myopathies, RYR1 variations and nemaline myopathy were the most common genetic and histopathological findings, with no infant mortality observed.
Why the study?
The relationship between pathologies and genetic causes in congenital myopathies is complex, and the prevalence of causative genes varies among different ethnic groups.
Observational (n=56)
No
Infancy-onset congenital myopathies in this Chinese cohort showed diverse genetic causes, predominantly RYR1 variations, and a notable prevalence of mild cardiac abnormalities, highlighting the need for routine cardiac monitoring.
May support cardiac surveillance in RYR1-related myopathies; extends genetic data in Chinese cohorts but remains hypothesis-generating.
BACKGROUND: Congenital myopathies are a group of rare neuromuscular diseases characterized by specific histopathological features. The relationship between the pathologies and the genetic causes is complex, and the prevalence of myopathy-causing genes varies among patients from different ethnic groups. The aim of the present study was to characterize congenital myopathies with infancy onset among patients registered at our institution. METHOD: This retrospective study enrolled 56 patients based on the pathological and/or genetic diagnosis. Clinical, histopathological and genetic features of the patients were analysed with long-term follow-up. RESULTS: Twenty-six out of 43 patients who received next-generation sequencing had genetic confirmation, and RYR1 variations (12/26) were the most prevalent. Eighteen novel variations were identified in 6 disease-causing genes, including RYR1, NEB, TTN, TNNT1, DNM2 and ACTA1. Nemaline myopathy (17/55) was the most common histopathology. The onset ages ranged from birth to 1 year. Thirty-one patients were followed for 3.83 ± 3.05 years (ranging from 3 months to 11 years). No patient died before 1 year. Two patients died at 5 years and 8 years respectively. The motor abilities were stable or improved in 23 patients and deteriorated in 6 patients. Ten (10/31) patients developed respiratory involvement, and 9 patients (9/31) had mildly abnormal electrocardiograms and/or echocardiograms. CONCLUSION: The severity of congenital myopathies in the neonatal/infantile period may vary in patients from different ethnic groups. More concern should be given to cardiac monitoring in patients with congenital myopathies even in those with static courses.
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Zhang et al. (2022) conducted an observational in Infancy-onset congenital myopathies (n=56). Infancy-onset congenital myopathies was evaluated on Genetic confirmation and histopathological diagnosis. In a cohort of 56 Chinese patients with infancy-onset congenital myopathies, RYR1 variations and nemaline myopathy were the most common genetic and histopathological findings, with no infant mortality observed.
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