eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | muscular atrophy |
| Comorbidity | C0026846|muscle wasting |
| Sentences | 4 |
| PubMedID- 24626262 | Duchenne muscular dystrophy (dmd) is a severe, genetic muscle wasting disorder characterised by progressive muscle weakness that culminates in respiratory failure and death, usually in the second to third decade of life. |
| PubMedID- 23259153 | Duchenne muscular dystrophy (dmd) and becker muscular dystrophy (bmd) are both muscle wasting disorders caused by mutations in the dmd gene. |
| PubMedID- 23344180 | Duchenne muscular dystrophy (dmd) is a severe muscle wasting disorder caused by a disruption of the dystrophin mrna reading frame resulting in an out-of-frame transcript and a non-functional dystrophin protein.1 in the past decade, a number of new treatments for dmd have been investigated, of which antisense oligonucleotide (ao)-mediated splice correction is one of the most promising approaches.2,3,4 aos modulate dystrophin pre-mrna splicing, by specifically restoring the reading frame of the dystrophin gene via exon skipping, and therefore generate truncated but semi-functional dystrophin protein isoforms. |
| PubMedID- 24600395 | While muscle weakness is a shared characteristic of many skeletal muscle wasting disorders including atrophy, sarcopenia, myopathy, and others, the long term outcome of these disorders in addition to the biochemical and molecular processes driving them can be distinct (romanick et al., 2013). |
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