loading...| Preferred Name |
spinal muscular atrophy-progressive myoclonic epilepsy syndrome |
| Synonyms |
myoclonus, hereditary, with progressive distal muscular atrophy myoclonus hereditary progressive distal muscular atrophy spinal muscular atrophy with progressive myoclonic epilepsy hereditary myoclonus-progressive distal muscular atrophy syndrome Jankovic Rivera syndrome SMAPME hereditary myoclonus and progressive distal muscular atrophy Jankovic-Rivera syndrome |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0008045 |
| database_cross_reference |
UMLS:C1834569 Orphanet:2590 MESH:C537563 OMIM:159950 DOID:0111527 ICD9:345.10 GARD:0003875 GARD:0003044 SCTID:703524005 |
| definition |
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. |
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0111527 http://identifiers.org/mesh/C537563 http://purl.obolibrary.org/obo/Orphanet_2590 |
| has_exact_synonym |
hereditary myoclonus-progressive distal muscular atrophy syndrome Jankovic-Rivera syndrome |
| has_related_synonym |
myoclonus, hereditary, with progressive distal muscular atrophy myoclonus hereditary progressive distal muscular atrophy spinal muscular atrophy with progressive myoclonic epilepsy Jankovic Rivera syndrome SMAPME hereditary myoclonus and progressive distal muscular atrophy |
| IAO_0000233 | |
| id |
MONDO:0008045 |
| in_subset | |
| label |
spinal muscular atrophy-progressive myoclonic epilepsy syndrome |
| notation |
MONDO:0008045 |
| prefLabel |
spinal muscular atrophy-progressive myoclonic epilepsy syndrome |
| treeView | |
| excluded subClassOf | |
| subClassOf |