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oculopharyngeal muscular dystrophy

MeSH: D039141ORPHA: 270

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with oculopharyngeal muscular dystrophy, sourced from HPO and Orphanet clinical annotations.

Sleep apneaCognitive impairmentPtosisOphthalmoplegiaDysphagiaMyopathyRagged-red muscle fibersSpondylolisthesisRimmed vacuolesAbnormal muscle fiber morphologyFatigueTongue muscle weaknessDysphoniaLimb-girdle muscle weaknessAxial muscle weaknessFeeding difficultiesTongue atrophyPainFatty replacement of skeletal muscleWeakness of facial musculatureReduced forced expiratory volume in one secondAngulated muscle fibersMuscle fiber intranuclear inclusion bodiesWet voiceMask-like faciesElevated circulating creatine kinase concentration

Classification & Codes

MeSH Code

D039141

Orphanet Code

ORPHA:270
oculopharyngeal muscular dystrophy
MeSHD039141
OrphanetORPHA:270
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO