Miopatías congénitas

ABSTRACT: Congenital myopathies are a group of primary hereditary, clinically and genetically heterogeneous skeletal muscle disorders, defined according to histopathologic lesions observed in muscle biopsies. The most common histopathologic lesions are protein aggregates, cores, and increased nuclear centralizations. The field of muscle congenital myopathies has met progress in the recent years by defining new disorders. In particular, next generation sequencing (NGS) techniques allowed the identification of around 20 novel forms of congenital myopathies. Some insights on the alteration of muscle contractility have been gained in the field of nemaline myopathies. In the perspective of future clinical trials, reaching out a confirmed genetic and histopathologic diagnosis and establish internationally accepted care measures are pivotal to reduce the disease burden of congenital myopathies patients. Keywords: Congenital myopathies, nemaline myopathies, congenital myopathies with cores, core-rod myopathies, reducing body myopathy, cap myopathy, centronuclear myopathies