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Skoliose bei spinaler Muskelatrophie

Scoliosis in spinal muscular atrophy

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Zusammenfassung

Bei der 5q-spinalen Muskelatrophie (5q-SMA) handelt es sich um eine autosomal-rezessive neuromuskuläre Erkrankung, welche durch eine biallele Mutation des Survival of motor neuron 1 SMN1-Gens verursacht wird. Der hierdurch entstehende SMN-Mangel verursacht eine progressive Degeneration anteriorer Motorneurone, die zu einer muskulären Atrophie und in zwei Drittel der Fälle zu einer Skoliose führt. In Abhängigkeit von den beschriebenen Subtypen kommt es bei der SMA zu einer zunehmenden Ateminsuffizienz und einem frühen Versterben der PatientInnen. Herausragende Fortschritte in der Grundlagenforschung haben in den letzten Jahren zur Zulassung neuer Therapien geführt, die das Krankheitsbild und dessen Therapie verändern werden. Wir stellen diese innovativen Therapieansätze als auch die operativen Strategien bei Skoliosen vor, und geben einen Ausblick auf zukünftige Herausforderungen.

Abstract

5q-spinal muscular atrophy (5q-SMA) is an autosomal recessive neuromuscular disorder caused by a biallelic mutation of the survival of motor neuron 1 SMN1 gene. The resulting lack of SMN protein causes a progressive degeneration of anterior motor neurons and muscular atrophy, which leads to a progressive scoliosis in two-thirds of affected cases. Depending on the disease subtype and severity, affected patients can subsequently develop respiratory insufficiency, leading to a fatal outcome. Ground-breaking research on this devastating disorder has led to the approval of novel therapies that may alter the clinical course of this disease in the future. Here we present a summary of these new therapies, current operative strategies for 5q-SMA associated scoliosis and provide an outlook for possible implications for the future.

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Abbreviations

AAV9:

Adenovirus-assoziierter Vektor 9

CHOP-INTEND:

Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders

EMA:

European Medicines Agency

EOS:

„Early-onset“-Skoliose

FDA:

Food and Drug Administration

G‑BA:

Gemeinsamer Bundesausschuss

HFMSE:

Hammersmith Functional Motor Scale Expanded

MFM:

Motor Function Measure

PEG:

Perkutane endoskopische Gastrostomie

SMA:

Spinale Muskelatrophie

SMN1:

Survival of motor neuron Gen 1 (telomeric)

SMN2:

Survival of motor neuron Gen 2 (centromeric)

SMN:

„Survival motor neuron protein“

SMNΔ7:

„Survival motor neuron protein“, fehlendes C‑terminales Exon 7

SSL:

„Sagittal spine length“

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Authors and Affiliations

  1. Centrum für Muskuloskeletale Chirurgie, Klinik für Orthopädie und Unfallchirurgie, Charité – Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Deutschland

    T.-L. Vu-Han Ph. D., M. J. Reisener,  M. Putzier &  M. Pumberger

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  1. T.-L. Vu-Han Ph. D.
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  2. M. J. Reisener
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  3. M. Putzier
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Correspondence to T.-L. Vu-Han Ph. D..

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T.-L. Vu-Han, M. J. Reisener, M. Putzier und M. Pumberger geben an, dass kein Interessenkonflikt besteht.

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

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Vu-Han, TL., Reisener, M.J., Putzier, M. et al. Skoliose bei spinaler Muskelatrophie. Orthopäde 50, 657–663 (2021). https://doi.org/10.1007/s00132-021-04131-7

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