Die gliedergürtelmuskeldystrophie vom typ 21 - Ein neues, klinisch heterogenes krankheitsbild

The autosomal recessive inherited LGMD2I is caused by mutations in the fukutin-related protein (FKRP) gene. In majority of european patients the common C826A mutation can be identified. The variable clinical course is ranging from severe, rapid progressive disease with weakness and wasting of the shoulder-girdle muscles and proximal extremities, and calf hypertrophy to mild disorder. Occasionally, the disease is limited to myalgia, cardiomyopathy or elevated serum of creatine kinase (CK) without clear muscular weakness. The electrophysiological and histological investigations in this disease are not specific, and the diagnosis of the LGMD2I is based on molecular identification of a typical mutation in the FKRP gene. Because of the extreme variety of clinical phenotypes in patients with LGMD2I, this disease should be considered not only in limb-girdle syndromes, but also in patients with myalgia, cardiomyopathy, and elevated serum CK.