SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1236844002
http://purl.bioontology.org/ontology/SNOMEDCT/1236844002
Preferred Name

Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome

Definitions
A rare congenital myopathy with characteristics of early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.
Synonyms
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
EMARDD (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome
Type http://www.w3.org/2002/07/owl#Class
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