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Update zur medikamentösen Behandlung der spinalen Muskelatrophie

Update on drug treatment of spinal muscular atrophy

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Zusammenfassung

Hintergrund

Die 5q-assoziierte spinale Muskelatrophie (SMA) ist eine hereditäre Motoneuronerkrankung, die zu einer progressiven Tetraparese, oft unter Einbezug der bulbopharyngealen und respiratorischen Muskelgruppen führt. Die Erkrankung manifestiert sich üblicherweise im frühen Kindesalter und ist unbehandelt zeitlebens progredient und je nach Schweregrad mit zahlreichen Komplikationen verbunden. Seit 2017 stehen nun genetisch basierte Therapiemechanismen zur Verfügung, die den ursächlichen SMN-Proteinmangel korrigieren und zu einer maßgeblichen Verlaufsmodifikation der Erkrankung führen. Mit der zunehmenden Zahl der Therapien stellt sich auch die Frage, welcher Patient für welche Therapie geeignet ist.

Ziel der Arbeit

Dieser Übersichtsartikel soll ein Update zu den bisherigen Therapiestrategien der SMA im Kindes- und Erwachsenenalter geben.

Abstract

Background

The 5q-associated spinal muscular atrophy (SMA) is a hereditary motor neuron disease leading to progressive tetraplegia, often involving the bulbopharyngeal and respiratory muscle groups. The disease usually manifests in early childhood and, if untreated, is progressive throughout life and associated with numerous complications depending on the severity. Since 2017, genetically based therapeutic mechanisms are now available that correct the causative deficiency of survival motor neuron (SMN) protein and lead to significant modifications in disease progression. As the number of treatment options increases, the question of which patient is suitable for which treatment also arises.

Objective

This review article provides an update on the current treatment strategies for SMA in children and adults.

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Authors and Affiliations

  1. Klinik für Kinderheilkunde, Center for Translational Neuro- and Behavioral Science, Universitätsmedizin Essen (UME), Universitätsmedizin Essen (UME), Essen, Hufelandstr. 55, 45147, Essen, Deutschland

    Heike Kölbel

  2. Klinik für Neurologie und Center for Translational Neuro- and Behavioral Science, Universitätsmedizin Essen (UME), Essen, Hufelandstr. 55, 45147, Essen, Deutschland

    Tim Hagenacker

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  1. Heike Kölbel
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Correspondence to Heike Kölbel or Tim Hagenacker.

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Interessenkonflikt

H. Kölbel gibt an: Vorträge in Industriesymposien (Pfizer, Roche, Novartis und Sanofi) und Advisory Board (Avexis/Novartis). T. Hagenacker gibt an: Advisory Board, Vorträge und Unterstützung bei Forschungsaktivitäten von Biogen, Roche und Novartis.

Für diesen Beitrag wurden von den Autor/-innen keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

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Kölbel, H., Hagenacker, T. Update zur medikamentösen Behandlung der spinalen Muskelatrophie. Nervenarzt 94, 488–493 (2023). https://doi.org/10.1007/s00115-023-01462-y

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