Spinal muscular atrophy with progressive myoclonic epilepsy

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) — is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting (atrophy) combined with progressive myoclonus epilepsy.

SMA-PME is associated with a missense mutation (c.125C→T) or deletion in exon 2 of the ASAH1 gene and is inherited in an autosomal recessive manner.

As with many genetic disorders, there is no known cure to SMA-PME.