Charcot-Marie-Tooth disease dominant intermediate D

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.

Signs and symptoms

• Hyporeflexia
• Axonal degeneration/regeneration
• Distal amyotrophy
• Upper limb muscle weakness
• Areflexia
• Distal muscle weakness
• Distal sensory impairment
• Segmental peripheral demyelination/remyelination

Also known as: CMTDID; Charcot-Marie-Tooth neuropathy dominant intermediate D; DI-CMTD; autosomal dominant intermediate Charcot-Marie-Tooth disease type D