eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | progressive myoclonus epilepsy |
| Comorbidity | C0026846|muscular atrophy |
| Sentences | 4 |
| PubMedID- 25847462 | Objective: to present the clinical features and the results of laboratory investigations in three patients with spinal muscular atrophy associated with progressive myoclonic epilepsy (sma-pme), a rare condition caused by mutations in the n-acylsphingosine amidohydrosilase 1 (asah1) gene. |
| PubMedID- 24164096 | Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. |
| PubMedID- 26526000 | Spinal muscular atrophy with progressive myoclonic epilepsy (sma-pme) is an extremely rare disorder related to the lysosomal storage disease, farber lipogranulomatosis. |
| PubMedID- 22703880 | Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in asah1. |
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