Oculopharyngeal muscular dystrophy: diagnosis, management and multisystem care

Oculopharyngeal muscular dystrophy (OPMD) is a rare, late-onset disorder caused by pathogenic expansions in the PABPN1 (poly(A)-binding protein nuclear 1) gene. It is characterised by progressive ptosis, dysphagia and proximal limb weakness. Due to the rarity of OPMD, patient care in general hospitals may be compromised by limited expertise, particularly during ocular, pharyngeal or gastrointestinal procedures. This can cause unnecessary complications which may be life-threatening. Here we provide a concise overview of the symptoms and signs, diagnostic investigations, counselling and symptomatic management of OPMD. We aim to contribute to the development of a tailored, multisystem approach to patient management across all care settings. We hope to improve awareness of OPMD and to improve healthcare for patients with this condition.