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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000726 | Dementia |
| HP:0001284 | Areflexia |
| HP:0001308 | Tongue fasciculations |
| HP:0002197 | Generalized-onset seizure |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002398 | Degeneration of anterior horn cells |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003391 | Gowers sign |
| HP:0003621 | Juvenile onset |
