Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study

Introduction

Dysferlinopathy, an autosomal recessive muscular dystrophy caused by DYSF mutations, demonstrates a variable phenotype and progression rate, with symptom onset ranging from first to eighth decade and some patients requiring wheelchairs for mobility within 10 years, with others remaining minimally affected.1

Dysferlinopathy populations have previously been described as having an unusually high level of presymptomatic sporting ability.2 We hypothesised that this activity could be related to subsequent disease progression and investigated the hypothesis using data from the Jain Foundation's Clinical Outcomes Study (COS) of 202 patients with dysferlinopathy.1

Methods

Data were used from 182 of the 202 patients enrolled in the Jain COS; 10 dropped out and did not give permission to use their data and 10 did not fully complete the exercise questionnaire.

The questionnaire used in the screening visits (online supplementary information) between 6 November 2012 and 19 March 2015 asked about the type,...

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