congenital hypomyelinating neuropathy 1

A congenital hypomyelinating neuropathy that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21.

Signs and symptoms

• Decreased motor nerve conduction velocity
• Distal amyotrophy
• Upper limb muscle weakness
• Onion bulb formation
• Areflexia
• Distal muscle weakness
• Motor delay
• Abnormal cranial nerve morphology
• Respiratory insufficiency
• Peripheral hypomyelination

Also known as: CHN1; CMT4E; Charcot-Marie-Tooth disease type 4E; Charcot-Marie-Tooth neuropathy type 4E; Neuropathy, congenital hypomyelinating, 1