Spinal muscular atrophy with respiratory distress (Q103448): Difference between revisions
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Revision as of 09:12, 17 August 2026
Most patients with SMARD present in the first 3 months of life with severe respiratory weakness and progressive muscle weakness. Other characteristic features include intrauterine growth retardation, premature birth and foot deformities. Diaphragmatic eventration may be observed. Death usually occurs by 12 months of age.
| Language | Label | Description | Also known as |
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| default for all languages | ID_960321619 |
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| English | Spinal muscular atrophy with respiratory distress |
Most patients with SMARD present in the first 3 months of life with severe respiratory weakness and progressive muscle weakness. Other characteristic features include intrauterine growth retardation, premature birth and foot deformities. Diaphragmatic eventration may be observed. Death usually occurs by 12 months of age. |
