This article discusses POLR3A-related disorders, which encompass a range of clinical phenotypes beyond the classical triad of hypomyelinating leukodystrophy, hypodontia, and hypogonadotrophic hypogonadism. The case study presented focuses on a 46-year-old woman with walking difficulties, lower limb pain, weakness, and stiffness. The patient exhibited various neurological symptoms, including a waddling gait, dystonic posturing of the feet, and head tremors. The article highlights the importance of considering POLR3A-related disorders in the differential diagnosis of spastic or cerebellar ataxias in adolescents and adults. [Extracted from the article]