Congenital and Other Structural Myopathies

Abstract

The congenital myopathies are a heterogeneous group of neuromuscular disorders defined by distinctive morphologic abnormalities of skeletal muscle with weakness and hypotonia. Clinical presentations range from fetal akinesia and neonatal lethality, to mild weakness with preserved ambulation, lifespan, and reproductive fitness. Intellectual abilities are unaffected and pathology is largely limited to skeletal muscle, although some forms include cardiomyopathy. Congenital myopathies can be broadly categorized into subgroups involving nemaline bodies ("rod myopathies"), central or minicores ("core myopathies"), centronuclear myopathies, and fiber type disproportions. Additional structural myopa..