The coordinators and contributors to the French National Observatory for Patients with Facio-Scapulo-Humeral Muscular Dystrophy (FSHD) have taken an interest in unusual forms and presentations of the disease:
- from the 953 patient files recorded in the database, the authors identified 306 atypical cases, or 19.6%
- depending on the case, these could be clinical or biological inconsistencies (genetic test results), or both,
- in 41% of cases, there was a discrepancy between the observed phenotype and the molecular biology results (number of residual D4Z4 repeats),
- in addition, three unusual signs, such as axial involvement, the presence of atopic dermatitis and anosmia, seem to stand out.
The authors note that these unusual forms tend to be associated with relatively long residual D4Z4 fragments.
