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<p>This study retrospectively analyzed 97 Tunisian Spinal Muscular Atrophy (SMA) patients (2008–2024), characterizing their phenotypes, diagnosis age, and consanguinity alongside copy number variations of <i>SMN1</i>, <i>SMN2</i>, <i>NAIP</i>, <i>p44</i>, and <i>H4F5</i>. SMA-I was the most prevalent phenotype (61.86%). We notice a significant male predominance with significant late age of diagnosis. Consanguinity was remarkably high (73.53%) and strongly associated with severe form SMA-I. Genetic analysis confirmed <i>SMN2</i> and <i>NAIP</i> as key modifiers, where lower copy numbers correlated with increased severity and respiratory complications. With 98% of patients carrying ≥ 2 <i>SMN2</i> copies, most are eligible for splicing-modifier therapies. Additionally, the prevalence of early-onset SMA-I underscores a promising perspective for gene replacement therapy before irreversible motor neuron loss occurs. <i>SMN2</i> and <i>NAIP</i> are vital prognostic markers in Tunisia. High consanguinity and gender-based diagnostic delays necessitate urgent newborn screening and early genetic intervention to optimize modern therapy efficacy.</p>

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Retrospective analysis of spinal muscular atrophy in tunisian population: phenotypic-genotypic associations and considerations for therapeutic advancement

  • 期刊论文

  • 发表日期：

    2026年7月29日

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  • Walid Sabri Hamadou,
  • Abdelbasset Amara,
  • Hamza Chouk,
  • Saoussen Trabelsi,
  • Ayda Bennour,
  • Salma Najar,
  • Malek Hammedi,
  • Amira Benzarti,
  • Dorra H’Mida,
  • Moez Gribaa

摘要

This study retrospectively analyzed 97 Tunisian Spinal Muscular Atrophy (SMA) patients (2008–2024), characterizing their phenotypes, diagnosis age, and consanguinity alongside copy number variations of SMN1, SMN2, NAIP, p44, and H4F5. SMA-I was the most prevalent phenotype (61.86%). We notice a significant male predominance with significant late age of diagnosis. Consanguinity was remarkably high (73.53%) and strongly associated with severe form SMA-I. Genetic analysis confirmed SMN2 and NAIP as key modifiers, where lower copy numbers correlated with increased severity and respiratory complications. With 98% of patients carrying ≥ 2 SMN2 copies, most are eligible for splicing-modifier therapies. Additionally, the prevalence of early-onset SMA-I underscores a promising perspective for gene replacement therapy before irreversible motor neuron loss occurs. SMN2 and NAIP are vital prognostic markers in Tunisia. High consanguinity and gender-based diagnostic delays necessitate urgent newborn screening and early genetic intervention to optimize modern therapy efficacy.