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A study of impairments in oculopharyngeal muscular dystrophy
Author(s) -
Brisson JeanDenis,
Gag Cynthia,
Brais Bernard,
Côté Isabelle,
Mathieu Jean
Publication year - 2020
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.26888
Subject(s) - oculopharyngeal muscular dystrophy , medicine , dysphagia , pharyngeal muscles , weakness , ptosis , muscular dystrophy , physical therapy , pediatrics , retrospective cohort study , physical medicine and rehabilitation , surgery , airway
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). Methods Retrospective chart review of patients followed at the Saguenay Neuromuscular Clinic (Quebec, Canada). Results 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. Discussion This study provides important information to help anticipatory guidance for affected people and for the development of therapeutic trials in OPMD.