Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder...
April 16, 2025 • Estimated Reading Time: 1 minute
Latest Research
Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder affecting muscle strength due to mutations in the Survival Motor Neuron 1 gene. Newborn screening can lead to earlier diagnosis and intervention, potentially changing how SMA subtypes are defined and treated.
Early detection through newborn screening significantly alters SMA management and prognosis by allowing timely treatment initiation, which is crucial for improving outcomes. This shift could impact the classification of SMA subtypes, especially with new therapies targeting the genetic cause, as discussed by Bitetti and Esposito (2025).
Clinical Trials
This is a list of upcoming or ongoing clinical trials that are actively recruiting and have been listed or updated in the last two weeks:
