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Objective <p>To explore the clinical and genetic features both spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) diagnosed in a child.</p> Methods <p>A child was diagnosed with SMA combined with a duplication of exons 2–20 in the <i>DMD</i> gene at another hospital. Optical genome mapping (OGM) was employed to assess whether the duplication of exons 2–20 in the <i>DMD</i> gene affected its function.</p> Results <p>The patient was a 19-month-old boy who presented with delayed motor development and generalised hypotonia. Whole exome sequencing (WES) and multiplex ligation-dependent probe amplification (MLPA) performed at another hospital indicated that the patient had a hemizygous duplication involving exons 2–20 of the <i>DMD</i> gene, which was maternally inherited. Additionally, the patient had a homozygous deletion of <i>SMN1</i> exons 7 and 8 (zero copies) and 3 copies of <i>SMN2</i> exons 7 and 8. Both parents carried one copy of <i>SMN1</i>. Additionally, the mother harboured two copies of <i>SMN2</i>, whereas the father had three copies of <i>SMN2</i>. OGM analysis revealed a tandem duplication of exons 2–20 in the <i>DMD</i> gene in the patient and his mother.</p> Conclusion <p>We describe a rare case of a patient with concomitant DMD and SMA. When a patient’s phenotype cannot be explained by a single genetic disorder, the possibility of multiple genetic disorders coexisting due to multiple mutations must be considered. OGM is a valuable diagnostic tool for determining the pathogenicity of <i>DMD</i> exon duplications, as it can definitively establish their genomic location and structure.</p>

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Clinical diagnosis and genetic analysis of a rare case of Duchenne muscular dystrophy and spinal muscular atrophy

  • 期刊论文

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  • 发表日期：

    2026年2月14日

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  • Yingwen Liu,
  • Minmin Wang,
  • Keji Zhang,
  • Lulu Yan,
  • Changshui Chen,
  • Haibo Li

摘要

Objective

To explore the clinical and genetic features both spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) diagnosed in a child.

Methods

A child was diagnosed with SMA combined with a duplication of exons 2–20 in the DMD gene at another hospital. Optical genome mapping (OGM) was employed to assess whether the duplication of exons 2–20 in the DMD gene affected its function.

Results

The patient was a 19-month-old boy who presented with delayed motor development and generalised hypotonia. Whole exome sequencing (WES) and multiplex ligation-dependent probe amplification (MLPA) performed at another hospital indicated that the patient had a hemizygous duplication involving exons 2–20 of the DMD gene, which was maternally inherited. Additionally, the patient had a homozygous deletion of SMN1 exons 7 and 8 (zero copies) and 3 copies of SMN2 exons 7 and 8. Both parents carried one copy of SMN1. Additionally, the mother harboured two copies of SMN2, whereas the father had three copies of SMN2. OGM analysis revealed a tandem duplication of exons 2–20 in the DMD gene in the patient and his mother.

Conclusion

We describe a rare case of a patient with concomitant DMD and SMA. When a patient’s phenotype cannot be explained by a single genetic disorder, the possibility of multiple genetic disorders coexisting due to multiple mutations must be considered. OGM is a valuable diagnostic tool for determining the pathogenicity of DMD exon duplications, as it can definitively establish their genomic location and structure.