Spinale Muskelatrophien

Zusammenfassung

Spinale Muskelatrophien (SMA) umfassen eine klinisch und genetisch heterogene Gruppe erblicher neuromuskulärer Erkrankungen, die durch einen progredienten Untergang von Vorderhornzellen im Rückenmark und zum Teil der motorischen Hirnnervenkerne charakterisiert sind. Die autosomal-rezessive proximale SMA des Kindes-und Jugendalters (SMA 5q) stellt mit ca. 80 bis 90% die Mehrheit aller spinalen Muskelatrophien und wird in Abhängigkeit vom Schweregrad in die Typen I bis III (IV) eingeteilt. Da mehr als 90% der Patienten eine homozygote Deletion des SMN1-Gens auf Chromosom 5q aufweisen, steht eine einfache molekulargenetische Diagnostik zur Verfügung. Mit der zunehmenden Aufklärung anderer SMA-Formen wächst das Verständnis für die Pathogenese und mögliche Therapieansätze von Vorderhornerkrankungen. Eine kausale Therapie der SMA steht nicht zur Verfügung, wenngleich klinische und genetische Studien sowie Untersuchungen am Tiermodell neue Hoffnungen geweckt haben.

Schlüsselwörter

Spinale Muskelatrophie - infantile SMA Typ I-III - SMA-Sonderformen - SMN1-Gen - Diagnostik

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