Term Name:	spinal muscular atrophy with progressive myoclonic epilepsy
Synonyms:	hereditary myoclonus-progressive distal muscular atrophy syndrome, Jankovic-Rivera syndrome, SMA-PME, SMAPME
Definition:	A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22.
Ontology:	Human Disease [DOID:0111527]   ( DOID:0111527 )