Pathological variants in the LAMA2 gene encoding merosine cause very early onset muscular dystrophy (CMD), but not always (then they are clinical pictures of limb-girdle myopathy). Dutch clinicians report the clinical and biological data of 27 patients:
- Twelve had a very early onset but survived into adulthood,
- The median age of this single-centre cohort was 21 years,
- MFM 20/32 and accelerometry proved to be the most suitable tools for capturing the progression of the disease,
- Cardiac involvement was rare but not exceptional.
These data provide important information concerning the natural history of this type of muscular dystrophy, particularly in the context of trials.