Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening

Genes (Basel). 2024 Jun 29;15(7):858. doi: 10.3390/genes15070858.

Abstract

In recent years, significant progress has been made in 5q Spinal Muscular Atrophy therapeutics, emphasizing the importance of early diagnosis and intervention for better clinical outcomes. Characterized by spinal cord motor neuron degeneration, 5q-SMA leads to muscle weakness, swallowing difficulties, respiratory insufficiency, and skeletal deformities. Recognizing the pre-symptomatic phases supported by screening and confirmatory genetic tests is crucial for early diagnosis. This work addresses key considerations in implementing 5q-SMA screening within the Brazilian National Newborn Screening Program and explores Brazil's unique challenges and opportunities, including genetic tests, time-to-patient referral to specialized centers, program follow-up, and treatment algorithms. We aim to guide healthcare professionals and policymakers, facilitating global discussions, including Latin American countries, and knowledge-sharing on this critical subject to improve the care for newborns identified with 5q SMA.

Keywords: Latin America and Caribbean (LAC); SMN1/SMN2; Spinal Muscular Atrophy; genetic tests; modifying therapies; newborn screening.

Publication types

  • Review

MeSH terms

  • Brazil
  • Early Diagnosis
  • Genetic Testing / methods
  • Humans
  • Infant, Newborn
  • Muscular Atrophy, Spinal* / diagnosis
  • Muscular Atrophy, Spinal* / genetics
  • Muscular Atrophy, Spinal* / therapy
  • Neonatal Screening* / methods
  • Patient Care / methods
  • Spinal Muscular Atrophies of Childhood / diagnosis
  • Spinal Muscular Atrophies of Childhood / genetics
  • Spinal Muscular Atrophies of Childhood / therapy

Grants and funding

This research received no external funding. The APC was funded by Instituto Jô Clemente.