spinal muscular atrophy with progressive myoclonic epilepsy (DOID:0111527)
Alliance: disease page
Synonyms: hereditary myoclonus-progressive distal muscular atrophy syndrome; Jankovic-Rivera syndrome; SMA-PME; SMAPME
Alt IDs: OMIM:159950, MESH:C537563, ORDO:2590, UMLS_CUI:C1834569
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 ASAH1 on chromosome 8p22.