Abstract
Spinal muscle atrophy (SMA) is a rare and clinically variable group of diseases, manifesting with degeneration of alpha motor neurons in the anterior horn of the spinal cord. An advance in disease therapy research brought hope in the form of causal treatment represented by risdiplam, a splicing modifier for a pre-mRNA expressed from the SMN2 (survival of motor neuron 2) gene.
Risdiplam is indicated for the treatment of SMA bound to the long arm of the fifth chromosome in patients aged from 2 months with the clinical diagnosis of type 1, 2, or 3 SMA, or for those with one to four copies of the SMN2 gene. The article summarizes the pharmacokinetic, pharmacodynamic, and safety drug profile.