We report on use of the Performance of upper limb in the Jain clinical outcome study of dysferlinopathy. Dysferlinopathy clinically presents as a spectrum of muscle weakness including both distal and proximal phenotypes and variable rates of progression. This variability presents challenges for developing clinical trial outcome measures. Currently, no dysferlinopathy specific tools exist to measure upper limb motor function. The Jain COS Consortium aims to overcome these challenges by collecting and analysing observational data from 203 genetically confirmed patients (aged 12–88) in eight countries over three years.

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