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[Update on spinal muscular atrophy treatment]

Ricardo Erazo Torricelli1

  • 1Unidad Neuromuscular, Hospital Luis Calvo Mackenna, Providencia, Santiago de Chile, Chile.

Medicina
|September 2, 2022
PubMed

Insights

Spinal muscular atrophy (SMA) treatments have evolved from supportive care to genetic therapies. Early intervention with gene modification or insertion significantly improves outcomes for children with SMA.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Spinal muscular atrophy (SMA) is a severe autosomal recessive neuromuscular disease impacting pediatrics.
  • Historically, SMA management focused on supportive care, including ventilatory, nutritional, and physical therapy.

Keywords:
nusinersenonasegnogenerisdiplamspinal muscular atrophy

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