Congenital and Other Structural Myopathies

摘要: The congenital myopathies are a heterogeneous group of neuromuscular disorders defined by distinctive morphologic abnormalities skeletal muscle with weakness and hypotonia. Clinical presentations range from fetal akinesia neonatal lethality, to mild preserved ambulation, lifespan, reproductive fitness. Intellectual abilities unaffected pathology is largely limited muscle, although some forms include cardiomyopathy. Congenital can be broadly categorized into subgroups involving nemaline bodies (“rod myopathies”), central or minicores (“core centronuclear myopathies, fiber type disproportions. Additional structural myofibrillar protein aggregation vacuolar myopathies. More than two dozen different genes implicated, including ones encoding components the thin filament (nemaline myopathies), sarcomere (titinopathies), triads (centronuclear core other structures. Most these genetically heterogeneous, many cause more one clinicopathological presentation, making genetic diagnosis critical adjunct traditional clinical pathological evaluations.