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<p>Spinal muscular atrophy (SMA) is a group of genetically heterogeneous neuromuscular diseases characterized by progressive loss of motor neurons in the anterior horns of the spinal cord. The prevalence of SMA is approximately 1 case per 10,000 live births. SMA is caused by a mutation in the <i>SMN1</i> gene, which encodes survival motor neuron protein. The disease phenotype depends on the number of copies of the <i>SMN2</i> pseudogene, which encodes an unstable isoform of the same protein. Despite the introduction of new drugs which help increase SMN protein levels, there is still a need to collect and systematize data on the natural history of the disease and evaluate the efficacies of new therapeutic approaches. Results from 12 retrospective and prospective studies conducted over the past 16 years, addressing the natural history of the disease in 646 children with SMA type I, are analyzed. The mean age at onset of symptoms was 2.1 ± 0.7 months and the first documented symptoms were muscle hypotonia, respiratory distress syndrome, and feeding difficulties. The mean age at death was 19.2 ± 10.1 months, the median age at reaching the combined endpoint (defined as the onset of death or the date of initiation of long-term respiratory support) was 7.7 months (95% CI 3.8, 13.9). The number of <i>SMN2</i> gene copies was known for 297 children – 81.5% had two copies, 3.7% had one copy, 14.5% had three copies, and 0.3% had four copies. Age at death depended on the number of copies of the <i>SMN2</i> gene – children with three copies of the <i>SMN2</i> gene survived significantly longer than children with two copies (22.7 months vs. 6.6 months). Provision of supportive care, tracheostomy, or gastrostomy also had positive effects on survival.</p>

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Natural History of Spinal Muscular Atrophy Type I

  • 期刊论文

  • 发表日期：

    2025年5月1日

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  • D. V. Vlodavets,
  • Yu. N. Linkova,
  • A. V. Zinkina-Orikhan,
  • M. A. Morozova,
  • E. A. Fokina,
  • A. V. Saulina,
  • A. N. Nikiforova

摘要

Spinal muscular atrophy (SMA) is a group of genetically heterogeneous neuromuscular diseases characterized by progressive loss of motor neurons in the anterior horns of the spinal cord. The prevalence of SMA is approximately 1 case per 10,000 live births. SMA is caused by a mutation in the SMN1 gene, which encodes survival motor neuron protein. The disease phenotype depends on the number of copies of the SMN2 pseudogene, which encodes an unstable isoform of the same protein. Despite the introduction of new drugs which help increase SMN protein levels, there is still a need to collect and systematize data on the natural history of the disease and evaluate the efficacies of new therapeutic approaches. Results from 12 retrospective and prospective studies conducted over the past 16 years, addressing the natural history of the disease in 646 children with SMA type I, are analyzed. The mean age at onset of symptoms was 2.1 ± 0.7 months and the first documented symptoms were muscle hypotonia, respiratory distress syndrome, and feeding difficulties. The mean age at death was 19.2 ± 10.1 months, the median age at reaching the combined endpoint (defined as the onset of death or the date of initiation of long-term respiratory support) was 7.7 months (95% CI 3.8, 13.9). The number of SMN2 gene copies was known for 297 children – 81.5% had two copies, 3.7% had one copy, 14.5% had three copies, and 0.3% had four copies. Age at death depended on the number of copies of the SMN2 gene – children with three copies of the SMN2 gene survived significantly longer than children with two copies (22.7 months vs. 6.6 months). Provision of supportive care, tracheostomy, or gastrostomy also had positive effects on survival.