Spinal muscular atrophy with respiratory distress (Q103448): Difference between revisions

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Latest 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
default for all languages	ID_960321619
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.