α‐Methylacyl‐CoA Racemase Deficiency in a Patient with Ataxia, Spasticity, and Segmental Dystonia.

The article discusses a case of α‐Methylacyl‐CoA racemase (AMACR) deficiency in a 56-year-old female with unique neurological features, including ataxia, spasticity, and segmental dystonia. AMACR deficiency is a rare disorder characterized by elevated levels of certain acids and can manifest in adulthood or the neonatal period. The patient's diagnosis was confirmed through genetic testing and laboratory findings, highlighting the importance of considering AMACR deficiency in patients with undiagnosed cerebellar ataxia and seizure. The article emphasizes the need for timely diagnosis and appropriate management in such cases. [Extracted from the article]