Paroxysmal Kinesigenic Gait Disorder in a 6-Year-Old Girl With N-α-Acetyltransferase 10 Related Syndrome (NAA10RS) Associated With c.235C>T (p.R79C): Expanding Phenotype.

Am J Med Genet AMay 14, 2026 (epub)
Case ReportMedical GeneticsNeurology

William D Brown

✦ AI-curated · Sources linked

Case in brief

A 6-year-old girl with N-α-acetyltransferase 10 related syndrome presented with a new abnormality of gait resembling paroxysmal kinesigenic dyskinesia after previously normal neurological evaluations. She had developmental delays noted at 15 months, and genetic testing revealed a pathogenic variant in NAA10. This case highlights the emergence of gait disorders in NAA10-related syndrome, expanding its clinical phenotype.

Diagnostic / clinical pearl

Clinicians should consider the potential for gait abnormalities in patients with NAA10-related syndrome, as this association has not been previously documented.

Source

PubMed · PMID 42135266

Published in Am J Med Genet A. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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