Two Years of Improved Neurological Function With Nusinersen in a 48-Year-Old Patient With Spinal Muscular Atrophy...

Area of Science:

• Neurology
• Genetics
• Pharmacology

Background:

• Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder.
• Nusinersen, an antisense oligonucleotide, is approved for SMA treatment.
• Limited evidence exists for nusinersen efficacy in adult SMA patients, particularly those with type 3.

Observation:

• A 48-year-old female with SMA type 3 received nusinersen.
• Treatment involved a loading dose and 8 maintenance infusions over 8 months.
• Grip and pinch strength were measured using hand-held dynamometry.

Findings:

• Significant improvements in grip and pinch strength were observed over 24 months.
• Subjective functional improvements were also reported by the patient.
• This represents the first published case of nusinersen in a middle-aged adult with SMA.

Implications:

• Nusinersen may offer sustained, clinically meaningful benefits for adult SMA patients.
• Initiating nusinersen treatment in mid-adulthood could be a viable therapeutic strategy.
• Further research is warranted to confirm efficacy in diverse adult SMA populations.