/MEGF10-related myopathy

MEGF10-related myopathy

Rare Disease

MONDO:0013731

Also Known As

MEGF10 myopathyMEGF10-related myopathycongenital myopathy 10A, severe variantEMARDDearly-onset myopathy, areflexia, respiratory distress and dysphagiaearly-onset myopathy-areflexia-respiratory distress-dysphagia syndromemyopathy, areflexia, respiratory distress, and dysphagia, early-onsetmyopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant

Definition

A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.