Disclosures: Kari J. Rezac: No financial relationships or conflicts of interest

Case Diagnosis: This case demonstrates a rare progressive, myopathic disorder, Oculopharyngeal Muscular Dystrophy (OPMD), which Physiatrists should consider in their differential because early PM&R involvement may improve functional outcomes.

Case Description: A 75-year-old male with past medical history significant for obstructive sleep apnea and type II diabetes, presents with ptosis, dysphagia for 20 years, and lower extremity weakness for 9 years. Patient reports his father, two sisters, and brother also suffer from ptosis and dysphagia. 8 years ago, patient was referred to neurology for ptosis, dysphagia, and genetic testing. 7 years ago, patient underwent bilateral upper lid frontalis slings for ptosis. That year, the patient had a clinical dysphagia evaluation showing mild-moderate dysphagia consistent with OPMD. Mechanical soft diet with thin liquids was ordered and last year he underwent esophageal dilation. Since the patient’s initial swallow study, study results have remained at a low aspiration risk and his weight has remained stable. Patient has noted progressive lower extremity weakness.

Setting: Outpatient Clinic in New Mexico

Assessment/Results: Patient will follow up with physiatry, physical, occupational, and speech therapy, ophthalmology, and gastroenterology with monitoring for progressive dysphagia and weakness.

Discussion: OPMD is a rare, slowly progressive myopathic genetic disorder that has been found predominantly in three distinct areas—Northern New Mexico in people of Hispanic ancestry; Quebec, Canada; and Bukhara Jews of Israel. Patients effected are usually between 40 and 60 years old. OPMD can be either autosomal dominant or recessive. Sexes are affected equally. Classic symptoms include ptosis, dysphagia, and proximal limb weakness.

Conclusion: As the world becomes smaller with increased ease of travel, this classically isolated myopathic disease of OPMD may become more widespread and should be on the differential for all physiatrists moving forward. While the disease is slowly progressive, early intervention with physiatry can assist with navigating long-term sequelae such as malnutrition, progressive weakness, and cognitive decline.

Level of Evidence: Level IV

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/rehabilitation-needs-in-oculopharyngeal-muscular-dystrophy/