Thieme Case Report 2020; 12(02): 1-24
DOI: 10.1055/a-1215-4559
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Nusinersen in the treatment of 5q spinal muscular atrophy (Sponsor: Biogen GmbH, München)

Abstract

Due to a mutation in the SMN1 gene on chromosome 5, in 5q-SMA there is a deficiency in the survival of motor neuron protein (SMA) which is essential for motor neurons. This leads to a degeneration of the 2nd motor neuron and progressive weakness and atrophy of the affected muscles. The targeted splicing modulator nusinersen (Spinraza®), an antisense oligonucleotide that binds to the SMN2-RNA, leads to increased production of functional SMN protein. This stabilizes the disease and improves muscle function.



Publication History

Article published online:
03 February 2021

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