MEGF10-related myopathy

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.

What is MEGF10-related myopathy?

MEGF10-related myopathy is a medical condition. A condition is a disease, disorder, or abnormal state that affects the body or mind. This page provides educational information only and is not a diagnosis.

If you think you may have MEGF10-related myopathy, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with MEGF10-related myopathy

Diaphragmatic weaknessDysphagiaFacial palsyFailure to thriveGastroesophageal refluxSeizureTongue fasciculations

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.