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The clinical outcome study for dysferlinopathy: an international multicenter study

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Item Type:Article
Title:The clinical outcome study for dysferlinopathy: an international multicenter study
Creators Name:Harris, E. and Bladen, C.L. and Mayhew, A. and James, M. and Bettinson, K. and Moore, U. and Smith, F.E. and Rufibach, L. and Cnaan, A. and Bharucha-Goebel, D.X. and Blamire, A.M. and Bravver, E. and Carlier, P.G. and Day, J.W. and Díaz-Manera, J. and Eagle, M. and Grieben, U. and Harms, M. and Jones, K.J. and Lochmüller, H. and Mendell, J.R. and Mori-Yoshimura, M. and Paradas, C. and Pegoraro, E. and Pestronk, A. and Salort-Campana, E. and Schreiber-Katz, O. and Semplicini, C. and Spuler, S. and Stojkovic, T. and Straub, V. and Takeda, S. and Rocha, C.T. and Walter, M.C. and Bushby, K.
Abstract:OBJECTIVE: To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy. METHODS: The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, evaluating patients with genetically confirmed dysferlinopathy over 3 years. We present a cross-sectional analysis of 193 patients derived from their baseline clinical and functional assessments. RESULTS: There is a high degree of variability in disease onset, pattern of weakness, and rate of progression. No factor, such as mutation class, protein expression, or age at onset, accounted for this variability. Among patients with clinical diagnoses of Miyoshi myopathy or limb-girdle muscular dystrophy, clinical presentation and examination was not strikingly different. Respiratory impairment and cardiac dysfunction were observed in a minority of patients. A substantial delay in diagnosis was previously common but has been steadily reducing, suggesting increasing awareness of dysferlinopathies. CONCLUSIONS: These findings highlight crucial issues to be addressed for both optimizing clinical care and planning therapeutic trials in dysferlinopathy. This ongoing longitudinal study will provide an opportunity to further understand patterns and variability in disease progression and form the basis for trial design.
Source:Neurology Genetics
ISSN:2376-7839
Publisher:American Academy of Neurology (U.S.A.)
Volume:2
Number:4
Page Range:e89
Date:4 August 2016
Official Publication:https://doi.org/10.1212/NXG.0000000000000089
PubMed:View item in PubMed

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