0995 Sleep-related Hypoventilation in a 62-Year-Old Female with a Rare Genetic Neuromuscular Disorder

Abstract Introduction Central Core Myopathy (CCM) is a rare genetic neuromuscular disorder involving mutation in the ‘Ryanodine Receptor’ (RyR1) gene, also known as gatekeeper of calcium within muscle cells. CCM typically manifests slowly progressive proximal weakness Currently, there limited data regarding management nocturnal hypoventilation adults with disorders. Report case(s) We present 62-year-old woman CCM, identified via RyR1 (c14818G>A) on testing, well biopsy. This genotype associated < 10% respiratory involvement. She presented to sleep clinic complaints morning headaches, non-restorative sleep, and daytime sleepiness. Her polysomnogram (PSG) showed an overall Apnea-Hypopnea-Index normal range. However, was increase transcutaneous carbon dioxide levels (PtcCO2), reaching peak 53 mmHg during rapid eye movement (REM) from 38 wakefulness, consistent sleep-related hypoventilation. On further evaluation, this patient had no evidence restrictive lung physiology or overt diaphragmatic dysfunction, suggested by 20% variation supine forced vital capacity. Moreover, her negative inspiratory force (NIF) value not less than 40. setting symptoms hypoventilation, our team decided trial non-invasive positive pressure ventilation (NIPPV). Since we concerns about alkalosis NREM body mass index, pulmonary function tests, REM sent for in-lab titration pressures measurement PtcCO2 appropriately recommend NIPPV settings. The study demonstrated bi-level airway settings IPAP 7 cmH20, EPAP 5 backup rate 12/min resulting sustained eucarbia steady both sleep. Conclusion case highlights importance evaluation symptomatic patients disorders potential improvement treatment NIPPV. demonstrates when due concern iatrogenic hyperventilation alkalosis. Support (if any)