Pathology and Therapeutic Agents for Spinal Muscular Atrophy

Key Points

• This research aims to explore the pathology of spinal muscular atrophy (SMA) and detail the mechanisms of new therapeutic agents.
• Discussed the pathology and physiological mechanisms of SMA.
• Reviewed recent advancements in gene therapy and pharmacological treatments for SMA.
• Analyzed the correlation between SMN2 gene copy number and disease severity.
• Gene therapies showed significant improvements in motor and respiratory functions in SMA patients.
• Emerging therapies are linked to enhanced production of SMN protein, leading to better clinical outcomes.
• Increased awareness of newborn screening is expected to standardize early treatment practices.

Abstract