spinal muscular atrophy movement disorder spinal muscular atrophy-progressive myoclonic epilepsy syndrome https://github.com/monarch-initiative/mondo/issues/5881 https://github.com/monarch-initiative/mondo/pull/2571/ https://www.malacards.org/card/spinal_muscular_atrophy_with_progressive_myoclonic_epilepsy MESH:C537563 myoclonus hereditary progressive distal muscular atrophy SMAPME Jankovic Rivera syndrome MEDGEN:371854 spinal muscular atrophy with progressive myoclonic epilepsy Jankovic-Rivera syndrome Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus. MONDO:0008045 DOID:0111527 OMIM:159950 GARD:0003875 UMLS:C1834569 hereditary myoclonus and progressive distal muscular atrophy ICD9:345.10 SCTID:703524005 Orphanet:2590 hereditary myoclonus-progressive distal muscular atrophy syndrome obsolete variable-age onset epilepsy syndrome ASAH1-related sphingolipidosis