Key result
Next-generation sequencing, muscle MRI, and muscle biopsy provide an integrated diagnostic approach to address the wide genetic and clinical heterogeneity of congenital myopathies.
This review outlines the clinical phenotypes, histological features, and emerging diagnostic tools like muscle MRI and next-generation sequencing for congenital myopathies.
May inform diagnostic strategies for congenital myopathies; leaves open prospective validation in larger cohorts.
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis. We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis.
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Cassandrini et al. (2017) conducted a review in Congenital myopathies. Next-generation sequencing and muscle MRI was evaluated. Next-generation sequencing, muscle MRI, and muscle biopsy provide an integrated diagnostic approach to address the wide genetic and clinical heterogeneity of congenital myopathies.
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