An international consortium of experts on facioscapulohumeral muscular dystrophy (FSHD) has compiled observations from patients diagnosed at a relatively advanced age:
- using clinical and biological data from a previous clinical trial called RESOLVE, the group identified 41 patients with late-onset FSHD,
- many of whom were female, with an average age of 65,
- with muscle weakness generally beginning in the lower limbs,
- whilst their genotype showed a longer residual D4Z4 repeat fragment.
These observations suggest that this population of FSHD patients should be categorised as a distinct group, requiring special attention in terms of both assessment and management.
