congenital myopathy 10A

info · Genetic

A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2.

Signs and symptoms

Poor head control
Hypotonia
Dysphagia
Respiratory distress
Scoliosis
EMG: myopathic abnormalities
Increased variability in muscle fiber diameter
Respiratory failure
Areflexia
Facial palsy

Also known as: EMARDD; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset; early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome