0979 Obstructive Sleep Apnea in a Patient with Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS)

Abstract Introduction Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a rare disorder caused by an autosomal recessive biallelic pentanucleotide repeat expansion in the replication factor C subunit 1 (RFC1) gene. Clinical features include gait disturbances, impaired vibratory sensation, autonomic dysfunction, cough, slow disease progression. Spinocerebellar ataxias are frequently associated sleep including REM behavior disorders, insomnia, obstructive apnea (OSA), central apnea. This thought to be secondary involvement of several nervous system structures cerebellum. OSA repeated obstruction pharyngeal airway leading disturbances fatigue. It likely that cerebellar insults such as CANVAS may play role upper resultant OSA. However, there little characterization this relationship medical literature. Report case(s) We report case 52-year-old female past history CANVAS, anxiety, depression who was referred medicine for evaluation worsening daytime fatigue fragmented sleep. She reported sleepiness, morning headaches, gasping arousals. Her Epworth sleepiness scale score markedly elevated at 19 (normal < 10), she subsequently home polysomnography testing Home revealed apnea-hypopnea index 12.5 events/hour minimum oxygen saturation 85%. Conclusion patient higher risk disruption due her diagnosis CANVAS. presented excessive found have mild on testing. Little known about presentation patients treatment has potential improve symptoms, quality life, mood otherwise progressive disabling neurologic disorder. Therefore early recognition intervention important care Given disease’s nature lack cure, it necessary ameliorate life however possible. leads persistent result psychiatric therefore, address movement disorders combat these outcomes. Support (if any)