Key result
Late-onset congenital myopathies increasingly emerge as key considerations in adult myopathy evaluations.
Why the study?
Later onset forms of congenital myopathies are increasingly recognized, with modern genetic technologies expanding their phenotypic spectrum and shifting classification toward a genetic basis.
This review alerts clinicians to include rare genetic late-onset congenital myopathies in the differential diagnosis of adult myopathic patients.
Clinicians should consider late-onset congenital myopathies in adult myopathy differentials; this review leaves open needs for prospective validation and standardized criteria.
Congenital myopathies (CMs) constitute a group of heterogenous rare inherited muscle diseases with different incidences. They are traditionally grouped based on characteristic histopathological findings revealed on muscle biopsy. In recent decades, the ever-increasing application of modern genetic technologies has not just improved our understanding of their pathophysiology, but also expanded their phenotypic spectrum and contributed to a more genetically based approach for their classification. Later onset forms of CMs are increasingly recognised. They are often considered milder with slower progression, variable clinical presentations and different modes of inheritance. We reviewed the key features and genetic basis of late onset CMs with a special emphasis on those forms that may first manifest in adulthood.
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Papadimas et al. (2020) conducted a review in Congenital myopathies in adulthood. Late-onset congenital myopathies (clinical and genetic features) was evaluated. Late-onset forms of congenital myopathies are increasingly recognized, present with variable clinical features, and require consideration in the differential diagnosis of adult myopathic patients.
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