Congenital Muscular Dystrophies
摘要
Congenital muscular dystrophies (CMDs) represent a large group of conditions characterized by progressive muscular weakness in the early infantile period, elevated serum creatinine kinase levels, and dystrophic patterns on the muscle biopsy. These can be characterized based on biochemical defects (disorders of glycosylation, defects of structural proteins, proteins of the endoplasmic reticulum, and the nucleus). Neuromuscular and non-neuromuscular clinical features form an important part of the diagnostic evaluation. MRI of the muscles and brain and muscle immunocytochemistry can provide diagnostic information.