Muskeldystrophie Typ Duchenne

Zusammenfassung

Die Muskeldystrophie Duchenne ist eine X-gebundene rezessive Erkrankung, die bei 1:3 500 Knaben auftritt. Sie wird durch Mutationen im DMD-Gen verursacht. Die Mutationen resultieren in einem Verlust von Dystrophin, dies führt zur progredienten Muskeldegeneration. Der Krankheitsverlauf ist durch eine progrediente, proximal betonte Muskelschwäche gekennzeichnet, die ohne Behandlung zu einem Gehverlust um das 10. Lebensjahr und zum frühzeitigen Tod um das 20. Lebensjahr durch Ateminsuffizienz oder Herzversagen führt. Durch symptomatische Therapien kann der Krankheitsverlauf positiv beeinflusst werden, besonders durch die Etablierung der nicht invasiven Beatmung konnte die Lebenserwartung erheblich verlängert werden. In den letzten Jahren wurden verschiedene Ansätze einer kausalen Therapie untersucht. Am weitesten gediehen ist das “exon skipping”, dessen Wirksamkeit in internationalen, multizentrischen Phase-III Studien untersucht wird.

Summary

Duchenne muscular dystrophy is an X-linked recessive disease that affects about 1:3 500 male birth. It is caused by mutations of the DMD gene. Mutations lead to a loss of dystrophin which results in progressive muscle degeneration. The phenotype is characterised by a progressive proximal pronounced muscle weakness. Without intervention a wheelchair is required in the beginning of the teens and death occurs at about 20^th year of life because of respiratoy or cardiac failure. Comprehensive multidisciplinary management can improve the course of disease, in particular the implementation of non-invasive ventilation remarkably prolonged life expectancy. Several gene therapeutic approaches are under examination. At present efficacy of exon skipping is investigated in international multicenter clinical trials.

Schlüsselwörter

Duchenne - Phänotyp - interdisziplinäre Betreuung - exon skipping

Keywords

Duchenne - phenotype - multidisciplinary management - exon skipping

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