Muskelerkrankungen und Atmungsstörungen

Zusammenfassung

In der klinischen Neurologie haben Atmungsstörungen bei Patienten mit Muskelerkrankungen eine zunehmende Bedeutung. Aufgrund der zur Verfügung stehenden guten Behandlungsmöglichkeiten durch Verfahren der nicht invasiven Beatmung sollten möglichst früh im Verlauf der Muskelerkrankungen die verschiedenen Atmungsstörungen klinisch diagnostiziert werden, um eine geeignete Beatmungstherapie einzuleiten. Die klinische Diagnostik basiert auf der gezielten Anamnese, klinischen validierten Fragebögen zur Tagesschläfrigkeit und der Beachtung der klinischen Symptome am Tage, die auf eine Atmungsstörung hinweisen. Atmungsstörungen treten bei Muskelerkrankungen initial im Schlaf auf. Die klinischen Symptome im Wachen und am Tag der früh als schlafbezogen imponierenden Atmungsstörungen sind in der alltäglichen Untersuchungssituation untersuchbar, ohne dass die Zuhilfenahme aufwändiger diagnostischer technischer Hilfsmittel erforderlich ist. Zu den am häufigsten mit initial schlafbezogenen Atmungsstörungen einhergehenden Muskelerkrankungen des Erwachsenen zählen einzelne Formen der Gliedergürteldystrophien (Sarkoglykanopathien und Fukutin-related-protein-assoziierte Formen), die Glykogenose Typ 2 (M. Pompe), die Myasthenia gravis und die Fazio-skapulo-humerale Muskeldystrophie.

Summary

There is a growing clinical importance of respiratory disturbances and respiratory failure in muscle disease during the last years. Due to the availability of modern techniques for noninvasive ventilation the early diagnosis of respiratory disturbances has a high impact on the symptomatic treatment of patients suffering from muscle diseases. The clinical diagnosis is based on the specific clinical history, validated scales to measure daytime sleepiness and the detailed examination of clinical symptoms during wakefulness indicating any form of respiratory disturbance or sleep disordered breathing during the night. The clinical examination should aim to detect clinical signs in the every day situation without using sophisticated technical devices. Clinically some forms of limb girdle muscular dystrophies (as sarkoglycanopathies and fukutin related protein associated forms), glycogenosis type 2 (Pompe´s disease), myasthenia gravis and facio-scapulo-humeral muscular dystrophy are the most relevant muscle diseases to cause early respiratory disturbances.

Schlüsselwörter

Muskelerkrankungen - Atmungsstörungen

Keywords

Muscle disease - respiratory disturbance - sleep disordered breathing

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