congenital myopathy 22A

A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also ca

A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B.

Signs and symptoms

• Normal pressure hydrocephalus
• Hypotonia
• Esodeviation
• Bilateral ptosis
• Generalized amyotrophy
• Centrally nucleated skeletal muscle fibers
• Generalized muscle weakness
• Gynecomastia
• Bradycardia
• Decreased activity of mitochondrial complex I

Also known as: classic congenital myopathy 22A