PedAM
Pediatric Disease Annotations & Medicines
| Disease | spinal muscular atrophy |
| Phenotype | C0014544|epilepsy |
| Sentences | 7 |
| 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- 20461011 | Like spinal muscular atrophy patients, patients with juvenile myoclonic epilepsy had significantly larger mu territories than normal controls. |
| PubMedID- 25938220 | The enzymatic activity was first identified over four decades ago and is deficient in two rare inherited disorders, farber lipogranulomatosis (farber disease) and spinal muscular atrophy with myoclonic epilepsy (sma-pme). |
| 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. |
| PubMedID- 25278999 | Association of type iv spinal muscular atrophy (sma) with myoclonic epilepsy within a single family. |
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