# spinal muscular atrophy with progressive myoclonic epilepsy

> rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting

**Wikidata**: [Q7577468](https://www.wikidata.org/wiki/Q7577468)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Spinal_muscular_atrophy_with_progressive_myoclonic_epilepsy)  
**Source**: https://4ort.xyz/entity/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000104763/MONDO_0008045)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000104763/Orphanet_2590)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)