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<p>Autosomal recessive spinal muscular atrophy (SMA) linked to chromosome 5q is an orphan neuromuscular disorder caused by mutations in the <i>SMN1</i> (Survival Motor Neuron) gene on the long arm of chromosome 5. The condition is more common in males, especially with onset of disease at ages from 37 months to 18 years. As SMA is usually associated with rapid manifestation of disease early in life, diagnosis in adolescents and adults can be difficult because of the nonspecificity of the symptoms of SMA. SMA type IV is rare. Disease onset can occur at age 15–50 years. The disease develops quite slowly, with virtually no change in life expectancy. This type of SMA produces a gradual decrease in overall muscle strength, leading over time to loss of the ability to move independently. We present our own observation of SMA 5q with onset in adulthood.</p>

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Chromosome 5q-Linked Spinal Muscular Atrophy in Adults

  • 期刊论文

  • 发表日期：

    2025年7月1日

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  • D. A. Parastaeva,
  • O. E. Zinovyeva,
  • E. I. Safiulina,
  • I. A. Strokov,
  • K. A. Popovskaya

摘要

Autosomal recessive spinal muscular atrophy (SMA) linked to chromosome 5q is an orphan neuromuscular disorder caused by mutations in the SMN1 (Survival Motor Neuron) gene on the long arm of chromosome 5. The condition is more common in males, especially with onset of disease at ages from 37 months to 18 years. As SMA is usually associated with rapid manifestation of disease early in life, diagnosis in adolescents and adults can be difficult because of the nonspecificity of the symptoms of SMA. SMA type IV is rare. Disease onset can occur at age 15–50 years. The disease develops quite slowly, with virtually no change in life expectancy. This type of SMA produces a gradual decrease in overall muscle strength, leading over time to loss of the ability to move independently. We present our own observation of SMA 5q with onset in adulthood.