spinal muscular atrophy with progressive myoclonic epilepsy

rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting
MedicalCondition rare_disease Q7577468
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spinal muscular atrophy with progressive myoclonic epilepsy

Summary

spinal muscular atrophy with progressive myoclonic epilepsy is a rare disease[1].

Key Facts

  • spinal muscular atrophy with progressive myoclonic epilepsy's instance of is recorded as rare disease[2].
  • spinal muscular atrophy with progressive myoclonic epilepsy's instance of is recorded as class of disease[3].
  • spinal muscular atrophy with progressive myoclonic epilepsy is a type of spinal muscular atrophies[4].
  • spinal muscular atrophy with progressive myoclonic epilepsy is a type of myoclonic epilepsy[5].
  • spinal muscular atrophy with progressive myoclonic epilepsy is a type of genetic motor neuron disease[6].
  • spinal muscular atrophy with progressive myoclonic epilepsy is a type of progressive epilepsy and/or ataxia with myoclonus as a major feature[7].
  • spinal muscular atrophy with progressive myoclonic epilepsy is a type of spinal muscular atrophy[8].
  • spinal muscular atrophy with progressive myoclonic epilepsy is a type of autosomal recessive disease[9].
  • spinal muscular atrophy with progressive myoclonic epilepsy's ICD-9-CM is recorded as 345.10[10].
  • spinal muscular atrophy with progressive myoclonic epilepsy's health specialty is recorded as neurology[11].
  • spinal muscular atrophy with progressive myoclonic epilepsy's genetic association is recorded as ASAH1[12].
  • spinal muscular atrophy with progressive myoclonic epilepsy's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2590[13].
  • spinal muscular atrophy with progressive myoclonic epilepsy's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111527[14].
  • spinal muscular atrophy with progressive myoclonic epilepsy's exact match is recorded as http://identifiers.org/doid/DOID:0111527[15].

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [2] . wikidata.org.
  2. [3] . wikidata.org.
  3. [4] . wikidata.org.
  4. [5] . wikidata.org.
  5. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] . Disease Ontology. Retrieved . wikidata.org.
  8. [9] . Disease Ontology. Retrieved . wikidata.org.
  9. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] . wikidata.org.
  11. [12] . Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  12. [13] . wikidata.org.
  13. [14] . Disease Ontology. Retrieved . wikidata.org.
  14. [15] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). spinal muscular atrophy with progressive myoclonic epilepsy. Retrieved May 3, 2026, from https://4ort.xyz/entity/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy
MLA “spinal muscular atrophy with progressive myoclonic epilepsy.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy.
BibTeX @misc{4ortxyz_spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{spinal muscular atrophy with progressive myoclonic epilepsy}}, year = {2026}, url = {https://4ort.xyz/entity/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): spinal muscular atrophy with progressive myoclonic epilepsy — https://4ort.xyz/entity/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy (retrieved 2026-05-03)

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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 5d ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Gard rare disease id 3044
    Health specialty neurology
    Icd-9-cm 345.10
    Imported from
    + 16 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"
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