European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2026
From biopsy to genotype: Clinical and genetic landscape of pediatric congenital myopathies in a single-centre series.
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Polakampalli Nikhitha, Kalpana D, Baby Greeshma, Ajit Karthika
Аннотация
BACKGROUND: Congenital myopathies are rare inherited neuromuscular disorders with overlapping clinical and histopathological features. Genotype-phenotype correlation is important for prognosis, respiratory surveillance and genetic counselling.
OBJECTIVES: To describe the demographic profile, genetic spectrum, genotype-phenotype correlation and outcomes of children with congenital myopathies from a tertiary care centre in South India.
METHODS: This retrospective observational study included children younger than 18 years with genetically confirmed congenital myopathy diagnosed over a four-year period. Demographic details, age at symptom onset, clinical phenotype, respiratory involvement, serum creatine kinase levels, biopsy findings, genetic diagnosis, ambulatory status and outcomes were analyzed descriptively.
RESULTS: Twelve children were included, with equal sex distribution. Symptom onset occurred predominantly in infancy or early childhood. RYR1 was the most frequent gene, identified in five children (41.7%), followed by SELENON and collagen VI-related genes. RYR1-related disease showed a variable phenotype, ranging from severe neonatal presentation to milder symptomatic forms with markedly elevated creatine kinase (CK). SELENON-related myopathy was associated with prominent axial weakness and respiratory morbidity. Collagen VI-related disorders showed joint laxity, contractures and retained ambulation, suggesting intermediate to severe phenotype. NEB-related myopathy with typical features was identified in one child. A rare form, CACNA1S myopathy was identified in one child. Respiratory involvement was observed in four children (33.3%). Eleven children survived, and one neonate with RYR1 myopathy died following severe respiratory failure.
CONCLUSIONS: This series highlights the shift from biopsy-centred to genotype-centred diagnosis, while supporting the continued role of muscle biopsy in genotype-negative, uncertain or discordant cases.
OBJECTIVES: To describe the demographic profile, genetic spectrum, genotype-phenotype correlation and outcomes of children with congenital myopathies from a tertiary care centre in South India.
METHODS: This retrospective observational study included children younger than 18 years with genetically confirmed congenital myopathy diagnosed over a four-year period. Demographic details, age at symptom onset, clinical phenotype, respiratory involvement, serum creatine kinase levels, biopsy findings, genetic diagnosis, ambulatory status and outcomes were analyzed descriptively.
RESULTS: Twelve children were included, with equal sex distribution. Symptom onset occurred predominantly in infancy or early childhood. RYR1 was the most frequent gene, identified in five children (41.7%), followed by SELENON and collagen VI-related genes. RYR1-related disease showed a variable phenotype, ranging from severe neonatal presentation to milder symptomatic forms with markedly elevated creatine kinase (CK). SELENON-related myopathy was associated with prominent axial weakness and respiratory morbidity. Collagen VI-related disorders showed joint laxity, contractures and retained ambulation, suggesting intermediate to severe phenotype. NEB-related myopathy with typical features was identified in one child. A rare form, CACNA1S myopathy was identified in one child. Respiratory involvement was observed in four children (33.3%). Eleven children survived, and one neonate with RYR1 myopathy died following severe respiratory failure.
CONCLUSIONS: This series highlights the shift from biopsy-centred to genotype-centred diagnosis, while supporting the continued role of muscle biopsy in genotype-negative, uncertain or discordant cases.