eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | progressive myoclonus epilepsy |
| Comorbidity | C0026847|spinal muscular atrophy |
| Sentences | 4 |
| 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. |
| 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 | spinal muscular atrophy with progressive myoclonic epilepsy (sma-pme) is a recently delineated, autosomal recessive condition caused by rare mutations in the n-acylsphingosine amidohydrolase 1 (acid ceramidase) asah1 gene. |
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