A marked decrease of orexin in the cerebrospinal fluid in a patient with myotonic dystrophy type 1 showing an excessive daytime sleepiness

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  • 髄液オレキシンが異常低値で重度の過眠症を呈した筋強直性ジストロフィーの１例
  • ズイエキ オレキシン ガ イジョウ テイチ デ ジュウド ノ カミンショウ オ テイシタ キン キョウチョクセイ ジストロフィー ノ 1レイ

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Abstract

Excessive daytime somnolence is one of the common complaints in patients with myotonic dystrophy. Here we report a 60-year-old female case of myotonic dystrophy type 1 with narcolepsy due to medical condition. The size of the CTG repeat in the 3' untranslated region of the DMPK gene was 1,800-2,400 repeats. Brain MRI was normal. Polysomnography revealed sleep apnea and chronic alveolar hypoventilation. Multiple sleep latency tests revealed normal sleep latencies and sleep onset REM was not observed. Orexin/hypocretin in the cerebrospinal fluid was markedly decreased to an undetectable level. Such sleep-related disorders may worsen the quality of life and possibly cause sudden death in patients with myotonic dystrophy. Narcolepsy associated with myotonic dystrophy should be evaluated appropriately.<br>

Journal

  • Rinsho Shinkeigaku

    Rinsho Shinkeigaku 49 (7), 437-439, 2009

    Societas Neurologica Japonica

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