Spinal muscular atrophy: Where are we now? Current challenges and high hopes
Article Category: Review
Published Online: Sep 12, 2022
Page range: 407 - 419
Received: Sep 19, 2021
Accepted: Feb 07, 2022
DOI: https://doi.org/10.2478/ahem-2022-0030
Keywords
© 2022 Marta Przymuszała et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle weakness. It causes movement issues and severe physical disability. SMA is classified into four types based on the level of function achieved, age of onset, and maximum function achieved. The deletion or point mutation in the Survival of Motor Neuron 1 (