SLEEP AND OCULOPHARYNGEAL MUSCULAR DYSTROPHY: DISEASE PROGRESSION AFFECTING VENTILATORY NEEDS AND TREATMENT OF SLEEP-DISORDERED BREATHING

Abstract Introduction Oculopharyngeal muscular dystrophy (OPMD) is an autosomal-dominant, late-onset, and progressive disease characterized by ptosis and dysphagia, sometimes proximal limb weakness and gait abnormalities. It often presents in patients in their 50s. The progressive functional decline of the pharyngeal muscles results in feeding difficulties and aspiration; however, patients may also have risk of nocturnal hypoventilation and sleep apnea, complicated by variable airway obstruction and compliance. Report of Cases: Using retrospective chart review, we identified patients with a known diagnosis of OPMD treated at the Raymond G. Murphy VA Sleep Center. We present a case where OPMD progression necessitated increased ventilatory support and affected positive airway pressure (PAP) compliance. A 58-year-old male with OPMD, DMT2, depression, and memory impairment underwent home sleep apnea testing showing severe OSA (REI 32.7, SpO2 nadir 72%). He started Auto-PAP 6-16 cwp and presented to discuss issues tolerating PAP. Pressures were lowered, but he continued to require maximum pressures without increased utilization. An in-lab CPAP titration showed treatment-emergent centrals but did not find optimal pressures due to limited sleep time. Having failed CPAP, he returned for an ASV titration which controlled his apnea in lateral position. Patient was switched to auto ASV to increase efficacy and comfort. Two months later he discontinued ASV due to frustration with disease progression and feeling unable to breathe deeply with the machine. Nocturnal oxygen at 1L was ordered while he awaited Neurology consult for OPMD. Later, concerned about progressive dyspnea, he resumed ASV, now with 3L O2 bleed. Given suspicion of hypoventilation (bicarbs 27-30), and that ASV could not adjust to his continually changing airway tone with his OPMD, he was switched to iVAPS. This resulted in good control of his sleep apnea, tidal volumes and minute ventilation. However, he reported pressures felt too high, returned to ASV for a period, then discontinued PAP altogether. Conclusion Patients with OPMD and sleep apnea require close follow-up as their disease progression may affect their ventilatory support needs. These patients may require more complex PAP modalities, such as AVAPs, and routine PFTs to help determine timing of ENT involvement for surgical airway planning. Support (If Any)