Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies
Meilleur KG, Jain MS, Hynan LS, Shieh CY, Kim E, Waite M, McGuire M, Fiorini C, Glanzman AM, Main M, Rose K, Duong T, Bendixen R, Linton MM, Arveson IC, Nichols C, Yang K, Fischbeck KH, Wagner KR, North K, Mankodi A, Grunseich C, Hartnett EJ, Smith M, Donkervoort S, Schindler A, Kokkinis A, Leach M, Foley AR, Collins J, Muntoni F, Rutkowski A, Bönnemann CG.
Neuromuscul Disord. 2015. 25(1):43-54.
Results of a two-year pilot study aiming at evaluate feasibility, reliability, and validity of various outcome measures, particularly the MFM-32, in 33 subjects with CMD COL6 and LAMA2.
The MFM-32 showed strong inter-rater (0.92) and internal consistency (0.96) reliabilities. Concurrent validity for the MFM-32 was supported by large correlations (range 0.623–0.936) with the following: FVC, NSAA, HFMS, timed functional tests, ACTIVLIM, and QUEST.
The MFM is reliable and valid in the two specific subtypes of CMD evaluated, COL6 and LAMA2.
Keywords: Clinical outcome measures, Collagen VI related muscular dystrophy, Laminin alpha 2 related Laminin alpha 2 related dystrophy, Motor function scales, Neuromuscular disease
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