Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
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A case of a missense DYNC1H1 mutation causing spinal muscular atrophy with lower limb predominance concurrent with germ cell tumor

  • Myung Ah Lee (Department of Neurology, Uijeongbu St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Myungshin Kim (Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea) ;
  • Jung Hwan Lee (Department of Neurology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea)
  • Received : 2023.05.22
  • Accepted : 2024.01.24
  • Published : 2024.04.30
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Abstract

We report a patient diagnosed with a germ-cell tumor presenting with spinal muscular atrophy with lower limb predominance (SMA-LED) caused by a DYNC1H1 genetic variant. His clinical and electrophysiologic phenotype was compatible with SMA-LED. We identified a heterozygous missense variant (c.1793G>T) of DYNC1H1. This report expands the clinical spectrum of DYNC1H1-related disorders, and reinforces the importance of DYNC1H1 in both central and peripheral neuronal functions. We suggest that germ-cell tumors should be considered as a possible phenotype of DYNC1H1-related disorders.

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References

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