A retrospective study of the natural history of dynamin-2-related centronuclear myopathy has been published by the team from Harvard Medical School (Boston, USA) and Dynacure in preparation for future clinical trials.
- The onset of the disease was noted before the age of 2 years in 16 patients, between 2 and 17 years in 18 patients, between 18 and 49 years in 5 patients and after 50 years in 3 patients.
- Muscle weakness was proximal and distal in the majority of cases (74%). The damage was asymmetrical in more than a third of the cases.
- Walking difficulties appeared in childhood (especially when the disease started before the age of 2) or in adulthood, or even after the age of 50 for some; one patient who died at the age of 3 never acquired walking and seven lost it at a median age of 55 years (10 – 71 years).
- More than half of the patients (53%) had varying degrees of respiratory impairment, but only six required invasive or non-invasive ventilatory support.
- 40% had chewing or swallowing difficulties, resulting in the permanent or occasional use of a gastrostomy in 4 children.
- An ogival palate was found in almost half of the cases and a restricted mouth opening in one third.
- Of the 8 pathogenic variants involved, 4 mutations affecting the dynamin 2 autoinhibition mechanism were associated with the most severe phenotypes.
