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.
Oculopharyngeal muscular dystrophy
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Codes
ICD10CM:
G71.09 – Other specified muscular dystrophies
SNOMEDCT:
77097004 – Oculopharyngeal muscular dystrophy
G71.09 – Other specified muscular dystrophies
SNOMEDCT:
77097004 – Oculopharyngeal muscular dystrophy
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Last Reviewed:04/28/2019
Last Updated:01/20/2022
Last Updated:01/20/2022
Oculopharyngeal muscular dystrophy