Congenital Muscular Dystrophies and Myopathies: An Overview and Update

Abstract

AbstractWith continuous deciphering of the genetic background of congenital muscular dystrophies and congenital myopathies, some of the historic classifications based on clinical phenotypes or histopathological similarities have become blurred. With a growing number of associated genes, the general understanding of these disorders is shifting to a more genotype-based classification. Furthermore, establishing of the right genetic diagnosis involves new aspects of clinical care and therapeutic considerations for gene-specific phenotypes and pathology. In this review, we give an overview of the wide spectrum of clinical phenotypes of congenital muscular dystrophies and congenital myopathies, outline diagnostic considerations, and summarize recent advances in research for selected diseases.