ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
Oculopharyngeal muscular dystrophy
Print
Other Resources UpToDate PubMed

Oculopharyngeal muscular dystrophy

Print Images (1)
Contributors: Carolyn Zyloney MD, Jamie Adams MD, Richard L. Barbano MD, PhD
Other Resources UpToDate PubMed

Synopsis

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant hereditary disease that usually manifests in patients aged 30-70 and is characterized by very slowly progressive weakness of craniopharyngeal muscles. It is a rare disorder affecting 1 per 100 000 people. However, there is an increased incidence among individuals of French Canadian and Bukharan Jewish descent, with up to 1 per 700 affected.

Symptoms include bilateral ptosis (the most common presenting symptom), dysphagia (the presenting symptom in about 25% of patients), and proximal muscle weakness. Patients may also develop difficulty with eye movements (although often without diplopia), nasal dysarthria, and mild neck weakness.

For more information, see OMIM.

Codes

ICD10CM:
G71.09 – Other specified muscular dystrophies

SNOMEDCT:
77097004 – Oculopharyngeal muscular dystrophy

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed: 04/29/2019
Last Updated: 06/13/2019
Copyright © 2019 VisualDx®. All rights reserved.
Oculopharyngeal muscular dystrophy
Print 1 Images
Oculopharyngeal muscular dystrophy : Eyelid ptosis, Dysphagia, Facial muscle weakness
Copyright © 2019 VisualDx®. All rights reserved.