Abstract
Spinal muscular atrophy (SMA) is a rare, severe and
autosomal recessive disorder with a disease onset at
infancy up to adulthood. SMA is characterized by
progressive muscle weakness of limbs and axial
muscles, eventually leading to respiratory insufficiency
in the majority of patients. From December
2016, the SMA specific antisense oligonucleotide
therapy nusinersen (Spinraza®), showed to be effective
in stabilising or improving motor function and
survival in the majority of infants and children with
SMA types 1 and 2. Efficacy of nusinersen in older
patients or patients with SMA types 3 or 4 is as of yet
unknown. We describe 2 cases with SMA type 1 of
whom one was and the other was not treated with
nusinersen, and give an overview of treatment with
nusinersen in Dutch children with SMA.
autosomal recessive disorder with a disease onset at
infancy up to adulthood. SMA is characterized by
progressive muscle weakness of limbs and axial
muscles, eventually leading to respiratory insufficiency
in the majority of patients. From December
2016, the SMA specific antisense oligonucleotide
therapy nusinersen (Spinraza®), showed to be effective
in stabilising or improving motor function and
survival in the majority of infants and children with
SMA types 1 and 2. Efficacy of nusinersen in older
patients or patients with SMA types 3 or 4 is as of yet
unknown. We describe 2 cases with SMA type 1 of
whom one was and the other was not treated with
nusinersen, and give an overview of treatment with
nusinersen in Dutch children with SMA.
| Translated title of the contribution | Nusinersen (spinraza); therapy in spinal muscular atrophy |
|---|---|
| Original language | Dutch |
| Pages (from-to) | 163-170 |
| Journal | Tijdschrift voor Neurologie en Neurochirurgie |
| Volume | 121 |
| Issue number | 4 |
| Publication status | Published - Aug 2020 |
Keywords
- antisense oligonucleotide
- Spinraza
- nusinersen
- SMA
- spinal muscular atrophy
- SMN