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Oculopharyngeal muscular dystrophy
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Oculopharyngeal muscular dystrophy

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.

Codes

ICD10CM:
G71.09 – Other specified muscular dystrophies

SNOMEDCT:
77097004 – Oculopharyngeal muscular dystrophy

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Differential Diagnosis & Pitfalls

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Therapy

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References

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Last Reviewed:04/28/2019
Last Updated:01/20/2022
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Oculopharyngeal muscular dystrophy
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A medical illustration showing key findings of Oculopharyngeal muscular dystrophy : Eyelid ptosis, Dysphagia, Facial muscle weakness
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