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 <i>DYNC1H1</i> genetic variant. His clinical and electrophysiologic phenotype was compatible with SMA-LED. We identified a heterozygous missense variant (c.1793G>T) of <i>DYNC1H1</i>. This report expands the clinical spectrum of <i>DYNC1H1</i>-related disorders, and reinforces the importance of <i>DYNC1H1</i> in both central and peripheral neuronal functions. We suggest that germ-cell tumors should be considered as a possible phenotype of <i>DYNC1H1</i>-related disorders.
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