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Oculopharyngeal muscular dystrophy
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Oculopharyngeal muscular dystrophy

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Contributors: Jamie Adams MD, Richard L. Barbano MD, PhD
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Synopsis

An autosomal dominant hereditary disease that usually manifests in patients aged 30-60 and is characterized by very slowly progressive weakness of craniopharyngeal muscles. There is an increased incidence among French Canadians. Symptoms include bilateral ptosis (the most common presenting symptom) and dysphagia (the presenting symptom in about 25% of patients). Patients may also develop difficulty with eye movements, though often without diplopia, nasal dysarthria, and mild neck weakness.

For more information, see OMIM.

Codes

ICD10CM:
G71.0 – Muscular dystrophy

SNOMEDCT:
77097004 – Oculopharyngeal muscular dystrophy

Differential Diagnosis & Pitfalls

Best Tests

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References

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Last Updated: 03/29/2017
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Oculopharyngeal muscular dystrophy
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Oculopharyngeal muscular dystrophy : Dysarthria, Muscle weakness, Dysphagia
Copyright © 2019 VisualDx®. All rights reserved.