Abstract
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.
Highlights
Introduction oductionCongenital myopathies (CMs) constitute a heterogenous group of rare inherited muscle diseases, ongenital myopathieuss(uCaMllsy) cpornesstietnuteinaghestienrcoegebnioruths gorroueparolfyrairne iinnhfaernitceyd wmuitshclehdyipsoeatsoensi,a, muscle weakness and skeletal y presenting since bdiretfhoromr ietaiersly[1in–4i]n.fTanhceyfiwrsithcahsyepsootfoanicao, nmguesnciltealwmeaykonpeastshaynwd esrkeerleetpaol rted in 1956 by Shy and Magee [5], mities [1,2,3,4]
malignant hyperthermia susceptibility (MHS) has been associated with exercise-induced rhabdomyolysis, [76,77,78,79,80] and recently, ryanodine receptor 1 (RYR1) mutations have emerged as an important cause, of rhabdomyolysis in healthy persons, even without an association with MHS [81]
Mutations in the selenoprotein N (SEPN1) gene have been identified as the cause of the following four autosomal recessive diseases, which are classified under the title of the SEPN1-related myopathies: rigid spine congenital muscular dystrophy, Multiminicore Disease (MmD), Congenital fiber type disproportion (CFTD) and desmin-related myopathy with Mallory body-like inclusions [88,89]
Summary
Congenital myopathies (CMs) constitute a heterogenous group of rare inherited muscle diseases, ongenital myopathieuss(uCaMllsy) cpornesstietnuteinaghestienrcoegebnioruths gorroueparolfyrairne iinnhfaernitceyd wmuitshclehdyipsoeatsoensi,a, muscle weakness and skeletal y presenting since bdiretfhoromr ietaiersly[1in–4i]n.fTanhceyfiwrsithcahsyepsootfoanicao, nmguesnciltealwmeaykonpeastshaynwd esrkeerleetpaol rted in 1956 by Shy and Magee [5], mities [1,2,3,4]. The term “congenital” implies that these diseases present with symptoms at birth, it has become clear, especially under the light of modern genetic technologies, that there are late-onset forms of CMs, which may be considered in the differential diagnosis of an adult myopathic patient. This is why many experts recommend alternately grouping them with other neuromuscular disorders [3]. The aim of the present review is to focus on inherited “paradoxical” late-onset forms of CMs, addressing the dilemma of their possible re-classification and alerting clinicians, who follow adult myopathic patients, to include them in the differential diagnosis
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