A study of impairments in oculopharyngeal muscular dystrophy

In this study we aimed to document the prevalence and age of onset of motor impairments and other key symptoms in oculopharyngeal muscular dystrophy (OPMD).

Retrospective chart review of patients followed at the Saguenay Neuromuscular Clinic (Quebec, Canada).

A total of 333 participants with the (GCN)₁₃ mutation were included. Before the age of 75 years, 27% of them had walking limitations, 14% could not climb stairs independently, and 14% used a wheelchair for long distances or daily living. The median age of onset was 54 years for ptosis and dysphagia and 58 years for lower limb proximal weakness. Other frequent symptoms included fatigue, pharyngeal pooling of thickened secretions, and dysphonia. The median age at death was 77 years and the main cause was respiratory disease.

This study provides important information to help anticipatory guidance for affected people and for the development of therapeutic trials in OPMD.