Italian researchers studied the evolution of clinical and biological parameters in a cohort of patients diagnosed and followed for myopathy related to pathogenic variants of the LMNA gene:
- 26 patients took part in this study, which lasted two years.
- the usual follow-up parameters were used as the basis for the analysis (NSAA score, timed tests, quality of life score, respiratory function tests, cardiac check-ups, etc.).
- while functional deterioration was the rule over the period under consideration, the authors noted more significant and rapid changes in patients with an Emery-Dreifuss phenotype than in those with a limb-girdle myopathy.
This work provides a better understanding of the differences in the natural history of this disease, and therefore enables therapeutic trials to be designed more effectively.
