Toward an objective measure of functional disability in dysferlinopathy
Woudt L, Di Capua GA, Krahn M, Castiglioni C, Hughes R, Campero M, Trangulao A, González-Hormazábal P, Godoy-Herrera R, Lévy N, Urtizberea JA, Jara L, Bevilacqua JA.
Muscle Nerve. 2016. 53(1):49-57.
The aim of the study was to assess, clinically and functionally, a cohort of patients with dysferlinopathy, using validated scales.
Thirty-one patients with dysferlinopathy were assessed using the MFM, Modified Rankin Scale (MRS), Muscle Research Council (MRC) scale, serum creatine kinase (CK) assessment, baseline spirometry data, and echocardiographic and electrophysiologic studies.
MFM and MRC scores showed a significant negative correlation with disease duration and inverse correlation with MRS, but not with onset age, clinical phenotype, or CK levels.
The results suggest that MFM is a reliable outcome measure that may be useful for longitudinal follow-up in dysferlinopathy.
Key words: dysferlinopathy, DYSF, Motor Function Measure, MRC score, recurrent mutations
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