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Toward an objective measure of functional disability in dysferlinopathy
Author(s) -
Woudt Lisanne,
Di Capua Gabriella A.,
Krahn Martin,
Castiglioni Claudia,
Hughes Ricardo,
Campero Mario,
Trangulao Alejandra,
GonzálezHormazábal Patricio,
GodoyHerrera Raúl,
Lévy Nicolas,
Urtizberea Jon Andoni,
Jara Lilian,
Bevilacqua Jorge A.
Publication year - 2016
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24685
Subject(s) - medicine , dysferlin , cohort , muscular dystrophy , spirometry , creatine kinase , vital capacity , population , cardiology , oncology , physical therapy , lung function , environmental health , lung , asthma , diffusing capacity
ABSTRACT Introduction Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols. Our aim in this study was to assess, clinically and functionally, a cohort of patients with dysferlinopathy, using validated scales. Methods Thirty‐one patients with genetically confirmed dysferlinopathy were assessed using the motor function measure (MFM), Modified Rankin Scale (MRS), Muscle Research Council (MRC) scale, serum creatine kinase (CK) assessment, baseline spirometry data, and echocardiographic and electrophysiologic studies. Results 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. Percent forced vital capacity (%FVC) correlated negatively with disease duration and onset age. Eight known pathogenic mutations were identified recurrently, 4 of which accounted for 79% of the total. Conclusions The results suggest that MFM is a reliable outcome measure that may be useful for longitudinal follow‐up in dysferlinopathy. Recurrent mutations suggest a founder effect in the Chilean population. Muscle Nerve 53 : 49–57, 2016