Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2024
Polysomnographic findings in the ultra-rare McLeod syndrome: further documentation of sleep apnea as a possible feature.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Dieter Munker, Kevin Peikert, Tobias Veit, Andreas Hermann, Lorenz Nowak, Kathrin Kahnert, Nikolaus Kneidinger, Juergen Behr, Jan Remi, Adrian Danek
Аннотация
STUDY OBJECTIVES: McLeod syndrome is a very rare multisystemic neurodegenerative disease linked to mutations in the XK gene. It has cardiac, neurologic, and neuromuscular manifestations and shares similarities with Huntington's disease. The aim of this study was to evaluate sleep patterns of patients affected by McLeod syndrome.
METHODS: This retrospective case series of four males who underwent diagnostic polysomnography (mean age 53.8 ± 2.5 years) includes self-reported and objective evaluation of sleep using the Epworth Sleepiness Scale, genetic tests, documentation of clinical course and features, and laboratory-based full-night attended video-polysomnography.
RESULTS: In three out of four patients, an Epworth Sleepiness Scale score ≥ 7 was evident. The average apnea-hypopnea index was 45.0 ± 19.0, with predominantly obstructive phenotype in three patients and predominant central events (central sleep apnea syndrome) in one patient. A significantly increased periodic limb movement index during sleep was observed in all patients. All patients tolerated continuous positive airway pressure or pressure controlled therapy.
CONCLUSIONS: Polysomnography of all patients confirmed sleep apnea syndrome as a feature of McLeod syndrome. Three patients were diagnosed with obstructive sleep apnea and one with central sleep apnea syndrome. In addition, periodic limb movement index was increased in all patients.
CITATION: Dieter M, Kevin P, Tobias V, et al. Polysomnographic findings in the ultra-rare McLeod syndrome: further documentation of sleep apnea as a possible feature. J Clin Sleep Med. 2024;20(3):339-344.
METHODS: This retrospective case series of four males who underwent diagnostic polysomnography (mean age 53.8 ± 2.5 years) includes self-reported and objective evaluation of sleep using the Epworth Sleepiness Scale, genetic tests, documentation of clinical course and features, and laboratory-based full-night attended video-polysomnography.
RESULTS: In three out of four patients, an Epworth Sleepiness Scale score ≥ 7 was evident. The average apnea-hypopnea index was 45.0 ± 19.0, with predominantly obstructive phenotype in three patients and predominant central events (central sleep apnea syndrome) in one patient. A significantly increased periodic limb movement index during sleep was observed in all patients. All patients tolerated continuous positive airway pressure or pressure controlled therapy.
CONCLUSIONS: Polysomnography of all patients confirmed sleep apnea syndrome as a feature of McLeod syndrome. Three patients were diagnosed with obstructive sleep apnea and one with central sleep apnea syndrome. In addition, periodic limb movement index was increased in all patients.
CITATION: Dieter M, Kevin P, Tobias V, et al. Polysomnographic findings in the ultra-rare McLeod syndrome: further documentation of sleep apnea as a possible feature. J Clin Sleep Med. 2024;20(3):339-344.