Congenital myopathies are a heterogeneous group of rare hereditary muscle diseases where next-generation sequencing is identifying many new genes, broadening the phenotype-genotype spectrum.
This review highlights the expanding genetic spectrum of congenital myopathies and emphasizes the need for multidisciplinary management.
Congenital myopathies comprise a clinical, histopathological, and genetic heterogeneous group of rare hereditary muscle diseases that are defined by architectural abnormalities in the muscle fibres. They are subdivided by the predominant structural pathological change on muscle biopsy, resulting in five subgroups: (1) core myopathies; (2) nemaline myopathies; (3) centronuclear myopathies; (4) congenital fibre type disproportion myopathy; and (5) myosin storage myopathy. Besides the clinical features, muscle biopsy, muscle imaging, and genetic analyses are essential in the diagnosis of congenital myopathies. Using next-generation sequencing techniques, a large number of new genes are being identified as the cause of congenital myopathies as well as new mutations in known genes, broadening the phenotype-genotype spectrum of congenital myopathies. Management is performed by a multidisciplinary team specialized in neuromuscular disorders, where the (paediatric) neurologist has an essential role. To date, only supportive treatment is available, but novel pathomechanisms are being discovered and gene therapies are being explored. WHAT THIS PAPER ADDS: Many new genes are being identified in congenital myopathies, broadening the phenotype-genotype spectrum. Management is performed by a multidisciplinary team specialized in neuromuscular disorders.
Kristl G. Claeys (2019) conducted a review in Congenital myopathies. Congenital myopathies are a heterogeneous group of rare hereditary muscle diseases where next-generation sequencing is identifying many new genes, broadening the phenotype-genotype spectrum.