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spinal muscular atrophy with progressive myoclonic epilepsy
Summary
- Synonym
-
- Jankovic-Rivera syndrome
- SMA-PME
- SMAPME
- hereditary myoclonus-progressive distal muscular atrophy syndrome
- 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.
- Super Class
- autosomal recessive disease spinal muscular atrophy
External Links
- Disease Ontology
- DOID:0111527
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13510 | Acid ceramidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002355 | Difficulty walking |
| HP:0001371 | Flexion contracture |
| HP:0004302 | Functional motor deficit |
| HP:0001250 | Seizure |
| HP:0002540 | Inability to walk |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0002015 | Dysphagia |
| HP:0000708 | Atypical behavior |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
