Polysomnographic findings in the ultra-rare McLeod syndrome: further documentation of sleep apnea as possible feature

STUDY OBJECTIVES: McLeod syndrome (MLS) 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 MLS. METHODS: This retrospective case series of 4 males who underwent diagnostic polysomnography (mean age 53.8 ± 2.5 y) includes subjective and objective evaluation of sleep using the Epworth Sleepiness Scale (ESS), genetic tests, documentation of clinical course and features, and laboratory-based full-night attended video-polysomnography. RESULTS: In three out of four patients, an ESS score

• Dieter, M.
• Kevin, P.
• Tobias, V.
• Andreas, H.
• Lorenz, N.
• Kathrin, K.
• Nikolaus, K.
• Juergen, B.
• Jan, R.
• Adrian, D.