Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy

About the Disease
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy, also known as jankovic-rivera syndrome, is related to lipogranulomatosis and unverricht-lundborg syndrome, and has symptoms including muscular fasciculation, myoclonus and seizures. An important gene associated with Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy is ASAH1 (N-Acylsphingosine Amidohydrolase 1), and among its related pathways/superpathways are Metabolism and S-1P Stimulated Signaling. Affiliated tissues include spinal cord, brain and tongue, and related phenotypes are abnormal enzyme/coenzyme activity and lower limb muscle weakness

Common Targets
ASAH1

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