Muscle and Nerve 2020-Apr
A study of impairments in Oculopharyngeal Muscular Dystrophy.
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RESULTS
A total of 333 participants with the (GCN)13 mutation were included. Before the age of 75 years, 27 % 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 include fatigue, pharyngeal pooling of thickened secretions and dysphonia. The median age at death was 77 years and the main cause was respiratory disease.