Eyelid Myoclonic Status Epilepticus: A Rare Phenotype in Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy Associated with ASAH1 Gene Mutation

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disease associated with mutations of ASAH1 gene, which encodes N-acylsphingosine amidohydrolase 1 [1]. It is characterized by progressive proximal muscle weakness due to anterior horn cell degeneration, followed by myoclonic seizures and cognitive decline [1]. Age of onset can range from childhood to adolescence [1,2]. In addition to myoclonic seizures, absence, atonic, and rare generalized tonic-clonic seizures have been described [1,2].

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