Spinal muscular atrophy with progressive myoclonic epilepsy

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) — is a very rare neurodegenerative disease resulting in severe muscle atrophy (wasting) and epilepsy.

SMA-PME is caused by a missense mutation (c.125C>T) or deletion in exon 2 of ASAH1 gene (locus: 8p22) and is inherited in an autosomal recessive manner.