No patients had cardiac involvement, but in few cases there was a moderate respiratory insufficiency. In all cases CK levels were highly elevated (over 1000 U/L). Discussion The definition of a particularly good level of sporting prowess before the onset of symptoms and the description of a subacute onset with muscle pain and Inhibitors,research,lifescience,medical swelling, if better understood, could potentially help in our understanding of the pathogenesis of the disease. In a group of unselected patients we have tested

the hypothesis whether such sportive activity might influence disease course and progression. Direct clinical comparison with different forms of muscular dystrophy is difficult, since there is no direct match in age of onset and progression. However, when we compared clinical progression of LGMD2B Inhibitors,research,lifescience,medical with LGMD2A, the majority of LGMD2A (20) did not perform Inhibitors,research,lifescience,medical sportive activities, they are not so good at sports or avoided sports at all before

disease onset, and LGMD2A seems to have an indolent atrophic course. Immunosuppressive treatment has been variably tried in LGMD and also in dysferlinopathy patients. While other types of LGMD (LGMD2D, or LGMD2I) have variably responded to steroids, most reports on dysferlin deficiency on steroids are negative and dysferlin deficiency behaves as a refractory disease. In cases of uncertain diagnosis both immunohistological features and western Inhibitors,research,lifescience,medical blotting might help for an accurate diagnosis (17, 21, 22). Also in view of inflammatory cell

in the muscle, the administration of rituximab Inhibitors,research,lifescience,medical has been tried: two patients (23) had some improvement in muscle strength, especially in the isometric hand-grip contraction. To our knowledge, these are the only two cases with increased muscle grip but the report is anedoctical and an opentrial. Furthermore, one of the two patients did not report already any selleck products sustained benefit. IVIg has also been tried with variable efficacy. In our experience, there might be some amelioration due to possible down-regulation of the complement inhibitory factor CD55 but a real controlled trial has not yet been done. Walker and a group of centers in Germany (data presented in Muscular Dystrophy Research Symposium, 2010, Padova) assessed the natural course of disease and efficacy of deflazacort treatment in 25 patients (between 25 and 63 years of age) with genetically confirmed dysferlinopathy in a double-blind, cross-over trial.