Case Report: Myoclonic and tremulous movements associated with COQ8A-related coenzyme Q10 deficiency type 4

This case highlights that <i>COQ8A</i>-related CoQ10 deficiency can present with serious neurological crises among young people and underscores the importance of rapid genetic diagnosis in such scenarios. Early and aggressive CoQ10 supplementation led to clinical stabilization in our patient, reinforcing that primary CoQ10 deficiency is a reversible cause of neurodegenerative disease. We emphasize genotype-phenotype diversity in <i>COQ8A</i> disease and the crucial need for early detection and treatment to improve prognosis. We propose that clinicians maintain a high index of suspicion for primary CoQ10 deficiency in patients presenting with unexplained dystonia or ataxia, as timely intervention may significantly improve clinical outcomes.