Studies of the natural history of neuromuscular diseases are essential to understand the evolution of the diseases and to find relevant evaluation criteria. Dysferlinopathy is a neuromuscular disease characterized by an active inflammatory and degenerative process ultimately leading to muscle fiber necrosis and replacement of muscle by fibrous and fatty tissue.
An international team involving several researchers and clinicians from the Institute of Myology* conducted a longitudinal evaluation of quantitative magnetic resonance imaging (MRI) and phosphorus magnetic resonance spectroscopy (31P NMR spectroscopy) measurements of skeletal muscle in the lower limbs of patients with dysferlinopathy, and assessed their relationship to muscle function.
Quantitative 31P MRI/NMR spectroscopy data were collected from 54 patients (42 in Newcastle, UK, and 12 in Paris) and 12 controls at baseline and at three annual follow-up visits. The authors performed :
- comparisons between patients and controls,
- assessments of annual changes using a linear mixed model,
- standardized response means,
- and correlations between MRI and 31P NMR spectroscopy markers and functional markers.
The results show that, in a heterogeneous group of patients with dysferlinopathy, quantitative MRI/ 31P NMR spectroscopy measurements allow the evaluation of significant changes over a 3-year period. In addition, these data can be used both as baseline values for future clinical trials in dysferlinopathy and as values for comparison with quantitative 31P MRI/NMR spectroscopy data obtained in other limb-girdle myopathy subtypes.
* Reyngoudt H, Caldas de Almeida Araújo E, Marty B, Azzabou N, Boisserie JM and Le Louër J from the NMR Laboratory – Spectroscopy Laboratory
Canal A and Hogrel JY from the Neuromuscular Physiology and Evaluation Laboratory
Stojkovic T from the Neuromuscular Pathology Reference Centre
