Charcot-Marie-Tooth disease axonal type 2S

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.

Signs and symptoms

• Upper limb muscle weakness
• Lower limb muscle weakness
• Areflexia of lower limbs
• Areflexia of upper limbs
• Hyporeflexia
• Steppage gait
• Gait disturbance
• Sensorimotor neuropathy
• Axonal degeneration
• Foot dorsiflexor weakness

Also known as: CMT2S; Charcot-Marie-Tooth disease type 2S; Charcot-Marie-Tooth neuropathy type 2S; autosomal recessive axonal Charcot-Marie-Tooth type 2S