MRI pattern changes in pelvic muscle and lower limb in patients with dysferlinopathy

Introduction. Dysferlinopathy is a phenotypically heterogeneous group of hereditary muscular dystrophies caused by mutations in the dysferlin gene (DYSF). Debut in adolescence, predominantly in physically developed patients, combined with the often subacute development of hypercreatine phosphatemia and edematous muscle changes in MRI often leads to diagnostic errors. Purpose of the study: to determine the most typical MRI pattern of muscle damage of the pelvic girdle and lower limb in patients with dysferlinopathy. Materials and methods. 40 people were examined, among which 20 patients with a clinical picture of dysferlinopathy with an equal ratio of Miyoshi phenotypes and LGMD and an average age of 35 (24; 44) years. Comprehensive clinical and instrumental examination included neurological, electroneuromyographic and molecular genetic studies (NGS). Magnetic resonance imaging of the muscles of the pelvic girdle and lower limb was performed in 20 patients and a control group equivalent in sex and age. Results. The use of semi-quantitative MRI indicators — relative signal intensity — D (D=T1 muscle (STIR) / T1 (STIR) subcutaneous fat layer) made it possible to formulate the characteristics of a common typical MRI pattern of muscle involvement in dysferlinopathy. An increase in the intensity of the relative signal D, T1 in the rear muscle group of the thighs and lower legs, indicating fatty infiltration was observed most frequently, while a decrease in D, STIR values was observed in the anterior and medial muscles of the thighs, reflecting the presence of edema of the previous fatty degeneration of these muscles. Conclusion. In addition to the general idea of muscle involvement in dysferlinopathy, it is advisable to consider the «early», «typical / completed» and «late» MRI patterns of dysferlinopathy that increase the effectiveness of the diagnosis of this disease. In the differential diagnosis of the Miyoshi phenotype from LGMD, one should focus on maintaining normal values of D, T1 from m. gluteus maximus and m. popliteus at all stages of the disease.

dysferlinopathy, Limb-girdle muscular dystrophy R2, DYSF, myopathy, muscle MRI, MRI pattern of dysferlinopathy

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