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11.10.2021 | Neugeborenenscreening | CME Zertifizierte Fortbildung

Diagnostik und Therapie der spinalen Muskelatrophie (SMA) bei Erwachsenen

Die neuen therapeutischen Möglichkeiten im Überblick

verfasst von: N. Schloss, B. Wirth, T. Kruse, H. C. Lehmann, PD Dr. G. Wunderlich

Erschienen in: DGNeurologie | Ausgabe 6/2021

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Zusammenfassung

Die proximale spinale Muskelatrophie (SMA) ist eine erbliche neuromuskuläre Erkrankung. Ihr klinisches Erscheinungsbild ist variabel mit progredienter Schwäche der Skelett‑, Schlund- und Atemmuskulatur. Ursächlich ist ein Mangel an SMN-Protein (SMN: „survival of motor neuron“) infolge des defekten SMN1-Gens auf Chromosom 5 durch homozygote Mutation/Deletion. Bis vor 4 Jahren stand keine kausale Therapie zu Verfügung, mittlerweile sind 3 Präparate (Nusinersen, Onasemnogen-Abeparvovec und Risdiplam) mit unterschiedlichen Therapieprinzipien (SMN2-Modifikation, SMN1-Gen-Ersatztherapie, Modifikation des Spleißvorgangs) und Applikationsarten (intrathekal, i.v., peroral) zugelassen. Die Kenntnis deren Vor- und Nachteile ist wichtig, um die klinische Versorgung zu optimieren. Die Pathogenese der SMA wird dargestellt, um darauf aufbauend die Wirkweisen der neuen SMN-assoziierten-Therapien zu erläutern. Zudem wird auf weitere Behandlungsmöglichkeiten und die Wichtigkeit des Neugeborenenscreenings eingegangen.

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Titel: Diagnostik und Therapie der spinalen Muskelatrophie (SMA) bei Erwachsenen
Die neuen therapeutischen Möglichkeiten im Überblick
verfasst von: N. Schloss
B. Wirth
T. Kruse
H. C. Lehmann
PD Dr. G. Wunderlich
Publikationsdatum: 11.10.2021
Verlag: Springer Medizin
Schlagwörter: Neugeborenenscreening
Spinale Muskelatrophien
Erschienen in: DGNeurologie / Ausgabe 6/2021
Print ISSN: 2524-3446
Elektronische ISSN: 2524-3454
DOI: https://doi.org/10.1007/s42451-021-00386-8

Neu in den Fachgebieten Neurologie und Psychiatrie

23.04.2024 | Demenz | Nachrichten

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Diagnostik und Therapie der spinalen Muskelatrophie (SMA) bei Erwachsenen

Die neuen therapeutischen Möglichkeiten im Überblick

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