Natural history of LGMD2A for delineating outcome measures in clinical trials

Richard I, Hogrel JY, Stockholm D, Payan CA, Fougerousse F; Calpainopathy Study Group, Eymard B, Mignard C, Lopez de Munain A, Fardeau M, Urtizberea JA. 
Ann Clin Transl Neurol. 2016. 4;3(4):248-65.
Observational study of clinical manifestations and disease progression in 85 Limb-girdle muscular dystophy 2A (LGMD2A, OMIM) patients for up to 4 years.
In this population, MFM-D1 was the most impaired (18.6 ± 19.7%), following by MFM-D2 (73.0 ± 18.6%), and MFM-D3 (91.4 ± 12.5%). Besides, MFM score was highly correlated with the “manual muscle testing” (MMT) score and the “quantitative muscle testing” (QMT) composite score. The relationship between MFM and MMT was linear while the relationship between MFM and QMT was rather curvilinear, indicating that strength is lost before function, probably because of compensatory mechanisms exerted by other muscle groups.

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