Диагностические возможности мрт мышц при нервно-мышечных заболеваниях

Considerable clinical and genetic heterogeneity ofneuromuscular disorders poses a significant challenge for their diagnosis. Unfortunately in Russia, morphologists use very limited amount of immunohistochemical techniques in analysis of muscle biopsy, and such method as quantified protein western blotting is not used at all. This situation does notfacilitate provisional diagnosis, that later could be confirmed genetically. One of the modem diagnostic methods is muscle MRI. We examined 231 patients with suspicion on neuromuscular disorder using muscle MRI. Muscle MRI with following genetic examination able to establish the correct diagnosis in 125 cases (54.1%). Muscle MRI allowed to diagnose such neuromuscular diseases as Duchenne muscular dystrophy, Bethlem myopathy, Emety-Dreifuss muscular dystrophy, LGMD 2A (calpainopathy) and LGMD 2B (dysferinopathy). We revealed the special diagnostic pattern of skeletal muscles degeneration in lower extremities for each of above mentioned diseases. In 57 (24.7%) patients the diagnosis of neuromuscular disease was withdrawn due to complete absence of degenerative changes and in 49 (21.4%) patients we found nonspecific degenerative changes in the muscles that gave us various differential diagnostic algorithms. In conclusion, we consider MRI of thigh and calf muscles as a highly informative tool for patients with neuromuscular disorders that can be used not only for diagnostic purposes, but also for assess ofprogression of muscle degeneration.