Tags: Disease.
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) sometimes called Jankovic–Rivera syndrome is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting (atrophy) predominantly affecting distal muscles combined with denervation and myoclonic seizures.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.