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• W4387247931 abstract "SESSION TITLE: Sleep Disorders Case Report Posters 2 SESSION TYPE: Case Report Posters PRESENTED ON: 10/10/2023 09:40 am - 10:25 am INTRODUCTION: Congenital myasthenic syndrome (CMS) is a group of rare genetic disorders that impair neuromuscular transmission. It is characterized by fatigability and transient or permanent weakness of ocular, facial, bulbar, or limb muscles(1). Clinical phenotypes overlap with other neuromuscular diseases including myasthenia gravis, making it crucial to differentiate between the two and avoid unnecessary immunosuppressant therapy or thymectomy (2) We present a case of severe sleep apnea due to CMS which dramatically improved after the initiation of fluoxetine. CASE PRESENTATION: A 61-year-old male with a history of generalised weakness since his early 40s presented to the clinic with blurry vision, difficulty picking up objects and clumsiness in his upper limbs. His symptoms had been relatively stable until recently, when he noticed worsening neck weakness walking uphill. He also complained of increasing daytime sleepiness and shortness of breath on mild exertion. On presentation, he was hemodynamically stable. Physical exam revealed reduced eye adduction bilaterally and mild to moderate weakness of the abductor pollicis brevis. Pulmonary function test (PFT) revealed a severe restrictive pattern consistent with respiratory muscle weakness. Polysomnography (PSG) confirmed severe obstructive sleep apnea (OSA) with apnea-hypopnea index (AHI) of 92 and a nadir oxygen saturation of 70%. He was initiated on continuous positive airway pressure (CPAP) treatment with modest improvement in daytime sleepiness. Initial lab work including anti-acethylcholine receptor antibody were unremarkable. Electromyography showed a neurogenic process with secondary myopathic changes. Muscle biopsy revealed mild myopathic features and rare foci of endomysial mononuclear inflammation with occasional degenerating/necrotic fiber. Subsequently buccal mucosal genetic sampling was positive for CHRNA1 gene mutation with p.Gly173Ser missense mutation suggestive of slow channel congenital myasthenic syndrome. He was initiated on high dose fluoxetine with marked improvement in his muscle strength and neck weakness. A follow-up PSG demonstrated dramatic improvement in OSA with AHI of 13 and nadir oxygen saturation of 86%, suggestive of improved nocturnal airway patency. DISCUSSION: Our patient presented with severe OSA with evidence of neuromuscular deficit and was later found to be slow-channel CMS (SCCMS). SCCMS is rare neurological disease due to prolonged opening of the postsynaptic channels causing a depolarization block. Patients may present with weakness involving neck muscles, extremities weakness, and progressive ventilatory insufficiency. Fluoxetine is often the first-line treatment as it blocks muscle and neuronal acetylcholine receptors (AChR) in a noncompetitive and voltage-dependent manner shortening the opening of mutant AChR channels. It is also important to distinguish SCCMS from other myasthenic disease including myasthenia gravis as treatment with acetylcholinesterase inhibitors such as pyridostigmine are not beneficial for SCCMS. CONCLUSIONS: Patients with severe OSA who only show modest improvement after positive airway pressure should be evaluated for underlying etiology and treated promptly. REFERENCE #1: Abicht A, Müller JS, Lochmüller H. Congenital Myasthenic Syndromes Overview. 2003 May 9 [Updated 2021 Dec 23]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022 REFERENCE #2: Jordan A, Freimer M. Recent advances in understanding and managing myasthenia gravis. F1000Research. 2018;7:1727 REFERENCE #3: Engel AG Myasthenic syndromes. Engel AGFranzini-Armstrong Ceds. Myology: Basic and Clinical. 2nd ed. New York, NY McGraw-Hill1994;1798- 1835 DISCLOSURES: No relevant relationships by David Chad No relevant relationships by Jeffrey Scott No relevant relationships by MICHELLE SIEW No relevant relationships by Yi Xiang Teo" @default.
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• W4387247931 date "2023-10-01" @default.
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• W4387247931 title "HIGH-DOSE FLUOXETINE DRAMATICALLY IMPROVED APNEA-HYPOPNEA INDEX IN A CASE OF CONGENITAL MYASTHENIC SYNDROME" @default.
• W4387247931 doi "https://doi.org/10.1016/j.chest.2023.07.4092" @default.
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