Oculopharyngeal muscular dystrophy
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Synopsis
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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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
- Myasthenia gravis
- Myotonic dystrophy
- Mitochondrial disorders (eg, chronic progressive external ophthalmoplegia)
- Fascioscapulohumeral muscular dystrophy
- Miller-Fisher syndrome
- Amyotrophic lateral sclerosis
- Oculopharyngodistal myopathy
- Brain stem strokes
- Posterior fossa brain tumors
- Multiple sclerosis
- Horner syndrome
- Cranial nerve palsies
- Aponeurotic ptosis
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Therapy
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References
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Last Reviewed:04/28/2019
Last Updated:01/20/2022
Last Updated:01/20/2022