Artículo de revista
Toward an objective measure of functional disability in dysferlinopathy
Fecha
2016Registro en:
Muscle Nerve 53: 49–57, 2016
DOI: 10.1002/mus.24685
Autor
Woudt, Lisanne
Di Capua, Gabriella A.
Krahn, Martin
Castiglioni, Claudia
Hughes García, Ricardo
Campero Soffia, Mario
Trangulao, Alejandra
González Hormazabal, Patricio
Godoy Herrera, Raúl
Levy, Nicolas
Urtizberea, Jon Andoni
Jara, Lilian
Bevilacqua, Jorge
Institución
Resumen
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.