Muscular dystrophies limb girdle type

The clinical picture in male children can closely resemble Duchenne-type muscular dystrophy in adults, it mimics limb-girdle dystrophy or polymyositis. The early and severe involvement of respiratory muscles in most patients with AMD is a distinctive clinical clue. Respiratory failure and pulmonary infection are the most common causes of death. 

Calpain Tissue specific calpains have been implicated in diabetes, cataracts, multiple sclerosis, and limb-girdle muscular dystrophy type 2A. More than 50 inhibitors of calpain have described which have a potential for therapeutic applications. 

Anderson, L.V.B., Harrison, L.V.B., Pogue, R., Vafiadaki, E., Pollitt, C., Davison, K., Moss, J.A., Keers, S., Pyle, A., and Shaw, P J., et al., 2000, Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)., Neuromuscul. Dis., 10, 553-559... 

Saito, K., Elce, J.S., Hamos, J.E., and Nixon, R.A., 1993, Widespread Activation of Calcium-Activated Neutral Proteinase (Calpain) in the Brain in Alzheimer Disease A Potential Molecular Basis for Neuronal Degeneration, Proc. Natl. Acad. Sci. U. S. A., 90, 2628-2632 Kawai, H., Akaike, M., Kunishige, M., Inui, T., Adachi, K., Kimura, C., Kawajiri, M., Nishida, Y., Endo, I., and Kashiwagi, S. et al., 1998, Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families, Muscle Nerve, 21, 1493-1501... 

Sorimachi, H., Ono, Y., Suzuki, K., 2000, Skeletal muscle-specific calpain, p94, and connectin/titin their physiological junctions and relationship to limb-girdle muscular dystrophy type 2A, Adv. Exp. Med. Biol., 481, 383-95... 

Sorimachi, H., Kinbara, K., and Kimura, S. (1995). Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence./. Biol. Chem. 270, 31158-31162. 

Thus in muscular dystrophy it is apparent that both the mean elevations of the serum enzyme values and the magnitudes of their variations upon physical activity are proportional to the mass of dystrophic muscle remaining and to the severity of the disease in it. Both are thus greater in early than in evident Duchenne-type dystrophy, less in limb-girdle dystrophy, and least in myotonia congenita. Further, though serum creatine kinase has been found to be an exceedingly delicate index of myopathy (A2, S14), for present purposes serum aldolase is suflBciently... 

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