Progressive muscular dystrophies.

摘要: Infancy- or childhood-onset muscular dystrophies may be associated with profound loss of muscle function, affecting ambulation, posture, cardiac and respiratory functions, while those late onset mild slight weakness fatigability induced by effort. In addition to the distribution weakness, symptoms, course disease, diagnosis dystrophy is usually ascertained histological findings. There connective tissue proliferation in perimysium endomysium, variation fiber size, cytoarchitectural alterations myofibers such as internal nuclei, myofibrillar whorls, splitting lobulation, but, most all, degeneration regeneration myofibers. Causes characterized wasting are heterogeneous include dysfunction diverse genetic pathways genes encoding proteins plasma membrane, extracellular matrix, sarcomere, nuclear membrane components. Duchenne Becker prototypes illustrating advances field myology. Limb-girdle (LGMDs) clinically genetically heterogeneous, some autosomal dominant (LGMD1) others recessive (LGMD2) inheritance. Neither clinical grounds nor biopsy patterns specific enough distinguish them, but two common denominators are: (1) predominating pelvic shoulder girdle muscles, occasional involvement myocardium; (2) necrosis While identification causes molecular increasingly improved, especially advent new generation sequencing technologies, optimized care, information for family, prevention, including counseling prenatal diagnosis, require multidisciplinary follow-up genetic, pediatric, psychological involvement.