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Fatigue, exzessive Tagesschläfrigkeit und schlafbezogene Atmungsstörungen bei myotonen Dystrophien

Fatigue, excessive daytime sleepiness, and sleep-related breathing disorders in patients with myotonic dystrophies

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Zusammenfassung

Die myotonen Dystrophien sind autosomal-dominant vererbte Multisystemerkrankungen, die durch eine progrediente Muskeldystrophie sowie durch kognitive und endokrine Störungen gekennzeichnet sind. Zahlreiche Patienten berichten über eine chronische Fatigue. Eine exzessiv gesteigerte Tagesschläfrigkeit gehört zu den frühen und führenden Symptomen, zumindest der myotonen Dystrophie (DM 1, M. Curschmann-Steinert). Ursächlich sind häufig schlafbezogene Atmungsstörungen (SBAS), die sich als obstruktive Schlafapnoe und/oder als schlafbezogene Hypoventilation manifestieren können. Unabhängig vom Vorliegen einer SBAS kann bei der DM 1 die exzessive Tagesschläfrigkeit Ausdruck einer symptomatischen ZNS-Hypersomnie sein. Der vorliegende Übersichtsartikel fasst die aktuelle Datenlage zu Ursachen, Diagnostik und Therapie von Fatigue und exzessiver Tagesschläfrigkeit bei Patienten mit myotoner Dystrophie zusammen.

Abstract

The myotonic dystrophies are dominantly inherited multisystem disorders characterized by progressive muscle weakness, endocrine symptoms, and mild-to-moderate cognitive impairment. Many patients report chronic fatigue. Excessive daytime sleepiness (EDS) is an early and highly relevant complaint of patients with myotonic dystrophy type 1 (DM 1). Sleep-related breathing disorders are a common cause of EDS in these patients, including both obstructive sleep apnea and nocturnal alveolar hypoventilation. In DM 1, EDS can also reflect secondary CNS hypersomnia. This article outlines our current knowledge on the etiology, diagnosis, and therapy of both fatigue and EDS in patients with myotonic dystrophy.

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Notes

  1. Myotonin-Protein-Kinase-Gen, Chromosom 19q13.

  2. Zinkfingerprotein 9, Chromosom 3q21.

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  1. Klinik und Poliklinik für Neurologie,Sektion für Schlafmedizin und ambulante Neurologie, Universitätsklinikum Münster, Albert-Schweitzer-Straße 33, 48149, Münster, Deutschland

    M. Boentert &  P. Young

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Boentert, M., Young, P. Fatigue, exzessive Tagesschläfrigkeit und schlafbezogene Atmungsstörungen bei myotonen Dystrophien. Somnologie 15, 47–52 (2011). https://doi.org/10.1007/s11818-011-0509-x

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