Researchers in Nice, in collaboration with several European teams, have compiled the clinical and genetic data of 157 patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1) followed at their centre:
- the vast majority had a phenotype and genotype classified as classic,
- a small group, reduced to 27, showed clinical atypia,
- additional studies (whole exome, mitochondrial genome study, search for triplet diseases) were carried out,
- in nine cases, a non-genetic cause was found (acquired neuropathy or radiculopathy),
- in fourteen other cases, several neurological diseases were identified, such as Huntington’s disease, several cases of myotonic dystrophy (type 1 and also type 2), one case of calpainopathy and two cases of mitochondropathy.
The question remains as to whether these are simply coincidental co-morbidities or not.
