The team at the Institute of Myology (Paris) reports the observation of a 52-year-old woman suffering for four years from permanent generalized muscle pain, aggravated by physical activity and associated with joint pain. She also complained of fatigue in the upper limbs, with difficulty holding her arms up.
- Muscle biopsy revealed a marked decrease in dysferlin, or even total disappearance in certain fibers.
- Genetic analysis revealed two probable pathological variants, confirming the diagnosis of dysferlinopathy.
This painful late-onset form is unusual for dysferlinopathies, which most often present as limb-girdle myopathies (LGMDR2) or distal myopathies (Miyoshi myopathy) with onset in the second or third decade, and adds to the still unexplained clinical heterogeneity of these pathologies.
