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.
Keywords
Nusinersen - muscular - arthophy - 5q-SMA - SMN
