Immer müde – Narkolepsie und Hypersomnie

Zusammenfassung

Zu den zentralen Hypersomnien zählen Narkolepsie Typ 1 (NT1) und Typ 2 (NT2), idiopathische Hypersomnie und Kleine-Levin-Syndrom. Am häufigsten ist die NT1 mit einer Prävalenz von 1/2000. Erste Symptome treten häufig vor dem 15. Geburtstag auf. Leitsymptome sind exzessive Tagesmüdigkeit, Kataplexie (affektiver Tonusverlust), hypnagoge Halluzinationen, Schlafparalyse und fragmentierter Nachtschlaf. Die Kataplexie kann bei Kindern durch eine anhaltende faziale Hypotonie und Zungen-Protrusion gekennzeichnet sein. Der Verlust des Neurotransmitters Hypocretin im Liquor gilt als spezifischer Biomarker. Die differenzialdiagnostische Einordnung der zentralen Hypersomnien gelingt in der Regel anhand der Anamnese und der Befunde von Polysomnografie (PSG) und multiplem Schlaflatenz-Test (MSLT). Frühe Diagnosestellung und Therapie führen zu einer Verbesserung der Lebensqualität und erleichtern die Eingliederung in das Berufsleben. Die Tagesmüdigkeit kann durch regelmäßigen Nachtschlaf und kurze Schlafpausen tagsüber gelindert werden, in der Regel werden zusätzlich Stimulanzien verabreicht. Das bei der NT1 häufig eingesetzte Natriumoxybat ist auch gegen die Kataplexie wirksam.

Abstract

Narcolepsy type 1 (NT1), narcolepsy type 2 (NT2), idiopathic hypersomnia and Kleine-Levin syndrome belong to the group of central hypersomnias. NT1 is the most frequent, with a prevalence of 1/2000. First symptoms usually develop before age 15. Leading symptoms of NT1 are excessive daytime sleepiness, cataplexy (loss of muscle tone associated with emotion), hypnagogic hallucinations, sleep paralysis and fragmented sleep. In children prolonged facial hypotonia and tongue protrusion are characteristic symptoms of cataplexy. The loss of hypocretin in cerebrospinal fluid is a specific biomarker. The remaining central hypersomnias can usually be ruled out with polysomnography (PSG) and multiple sleep latency test (MSLT). Early diagnosis and therapy improve quality of life and shall allow normal working life. For excessive daytime sleepiness, regular bed times and short naps during daytime are recommended, and usually an additional treatment with stimulants is necessary. Sodium Oxybate is often used in NT1 and also effective in treating cataplexy.

Schlüsselwörter

Tagesmüdigkeit - Kataplexie - Sleep onset REM period (SOREMP) - multipler Schlaflatenz-Test (MSLT)

Key words

Daytime sleepiness - cataplexy - sleep onset REM period (SOREMP) - multiple sleep latency test (MSLT)

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