Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME) is a rare, genetic disorder characterized by progressive muscle weakness and wasting (atrophy), along with an uncontrolled jerking movement known as myoclonic epilepsy. This condition is caused by mutations in the ASAH1 gene, which plays a crucial role in the metabolism of certain fats in the body. […]











