Signs and Symptoms in Congenital Myopathies.


Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address: [Email]


Congenital myopathies (CM) represent a continuously growing group of disorders with a wide range of clinical and histopathologic presentations. The refinement and application of new technologies for genetic diagnosis have broadened our understanding of the genetic causes of CM. Our growing knowledge has revealed that there are no clear limits between each subgroup of CM, and thus the clinical overlap between genes has become more evident. The implementation of next generation sequencing has produced vast amounts of genomic data that may be difficult to interpret. With an increasing number of reports revealing variants of unknown significance, it is essential to support the genetic diagnosis with a well characterized clinical description of the patient. Phenotype-genotype correlation should be a priority at the moment of disclosing the genetic results. Thus, a detailed physical examination can provide us with subtle differences that are not only key in order to arrive at a correct diagnosis, but also in the characterization of new myopathies and candidate genes.