Dysferlinopathies are a fairly heterogeneous group of hereditary muscular dystrophies resulting in distal (Miyoshi myopathy) proximal (type 2B LGMD), or mixed (proximal-distal) muscle deficiencies. These myopathies are due to mutations in the DYSF gene encoding dysferlin, a protein involved in membrane repair processes. Dysferlinopathies occur mainly in young adults and are often preceded by a period when a significant proportion of people are known to be very athletic, unlike people with other muscular dystrophies.
In an article published in January 2018, researchers involved in the protocol set up by the Jain Foundation to describe the natural history of dysferlinopathies were interested in this possible link with sports activity before the appearance of the first symptoms of dysferlinopathy. The 182 patients who participated in the study were divided into four categories based on their past sports activities (between 10 and 18 years of age). These data were then analysed against other clinical criteria (age of onset of motor symptoms, functional status including the use of a wheelchair). Contrary to what was known until now, high-level sports is associated with early symptoms and increased functional dependence later. However, the authors do not proscribe exercise in people who are already symptomatic.
