Dystrophy肌营养不良症 46 ppt课件.pptVIP

Distal Muscular Dystrophy Presentation: weakness in forearms, hands, and lower legs clinically similar to a neuropathy but NCV normal Muscle biopsy with autophagocytic vacuoles/ inclusion bodies Table 3 – Types of DMD Welander distal myopathy AD/2p13 hands first Anterior tibial/Markesbery-Griggs/Udd AD/2q31-33 Nonaka/Inclusion body myopathy 2 AR/9p13 Rimmed vacuoles, inclusion bodies, affects GNE Gowers/Laing distal myopathy AD/14q11 Miyoshi myopathy AR/2p13 Affects dysferlin Distal myopathy with vocal cord and pharyngeal weakness AD/5 Myopathies Central core disease: Ryanodine receptor, Ca