Update on Congenital Myopathies in Adulthood

• Main Authors: George Konstantinos Papadimas, Sophia Xirou, Evangelia Kararizou, Constantinos Papadopoulos
• Format: Article
• Language: English
• Published: MDPI AG 2020-05-01
• Series: International Journal of Molecular Sciences
• Subjects: adult onset congenital myopathies; late onset myopathies; inherited myopathies
• Online Access: https://www.mdpi.com/1422-0067/21/10/3694
• ISSN: 1661-6596; 1422-0067

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.