Charcot-Marie-Tooth disease dominant intermediate E

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32.

Signs and symptoms

• Onion bulb formation
• Areflexia
• Distal muscle weakness
• Proteinuria
• Peripheral neuropathy
• Distal upper limb amyotrophy
• Axonal loss
• Distal lower limb amyotrophy
• Stage 5 chronic kidney disease
• Hyporeflexia

Also known as: CMTDIE; Charcot-Marie-Tooth disease-nephropathy syndrome; Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis; autosomal dominant intermediate Charcot-Marie-Tooth disease type E