Action Myoclonus-Renal Failure Syndrome: Case Report with Bioinformatic Annotations

Action myoclonus-renal failure (AMRF) syndrome is a rare autosomal recessive disorder characterized by myoclonic epilepsy with occasional renal comorbidity. This study examines consanguineous family multiple members presenting epilepsy. The disease's continued transmission within the attributable to lack of genetic testing and inability establish definitive diagnosis. Our objective guide physicians toward accurate diagnoses reduce recurrence through appropriate counseling. Various diagnostic approaches can contribute identifying AMRF. While magnetic resonance imaging (MRI) results blood panels may not yield diagnoses, electromyography (EMG) studies serve as robust tool, leading confirmation. In line standardized protocols, EMG findings consistent AMRF present polyneuropathy axonal degeneration demyelinating features. These features manifest decreased amplitude for nerve conduction velocity (NCV) demyelination. presence such in patient exhibiting both central nervous system involvement reinforce preliminary diagnosis warrant further analysis.