In order to gain a better understanding of the natural history of oculopharyngeal muscular dystrophy (OPMD) and with a view to therapeutic trials, Canadian researchers have produced a comprehensive review of the various biomarkers for this late-onset myodegenerative disease:
- the triplet expansion required to confirm the diagnosis and assess the phenotype must now be expressed in GCN and not just GCG,
- Quality of life scales specific to DMOP are still lacking,
- Longitudinal muscle imaging studies are of definite interest, although not fully validated, as are measures of dysphagia and its impact,
- omics” type approaches are currently being developed but do not yet have practical applications.
The authors argue for an integrative approach to all these tools.
