Biallelic Variants in AFG3L2 Causing Spastic Ataxia Type 5 (SPAX5): Report of Two Pediatric Cases from Bogotá, Colombia

Abstract Background Spastic ataxia type 5 (SPAX5) is a rare autosomal recessive neurodegenerative disorder caused by biallelic variants in the AFG3L2 gene. It is characterized by spasticity, cerebellar ataxia, dystonia, and myoclonic epilepsy. Objectives The objective was to describe the clinical features, with a focus on abnormal movements, and therapeutic outcomes in two Colombian patients with SPAX5. Methods Two non‐consanguineous patients were evaluated for movement disorders, including spasticity, dystonia, and myoclonus, along with developmental regression and seizures. Treatment responses to antiepileptic drugs and levodopa were analyzed. Results Both patients presented with lower extremity spasticity, generalized dystonia, myoclonus, and seizures. Their responses to treatment were highly variable. Conclusions This study emphasizes the importance of abnormal movements in the clinical presentation of SPAX5 and highlights the variability in treatment outcomes.