| Metadata | |
|---|---|
| ID | DOID:0111527 |
| Name | spinal muscular atrophy with progressive myoclonic epilepsy |
| 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. https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy, https://www.ncbi.nlm.nih.gov/pubmed/22703880 |
| Xrefs |
SNOMEDCT_US_2023_03_01:703524005 |
| Subsets |
DO_rare_slim |
| Synonyms |
hereditary myoclonus-progressive distal muscular atrophy syndrome [EXACT] Jankovic-Rivera syndrome [EXACT] SMA-PME [EXACT] SMAPME [EXACT] |
| Parent Relationships |