Human genes for spinal muscular atrophy with progressive myoclonic epilepsy
Spinal muscular atrophy with progressive myoclonic epilepsy [DOID:0111527]
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.
Synonyms: spinal muscular atrophy with progressive myoclonic epilepsy, DOID:0111527, spinal muscular atrophy with progressive myoclonic epilepsies, hereditary myoclonus-progressive distal muscular atrophy syndrome, Jankovic-Rivera syndrome ...