Charcot-Marie-Tooth disease axonal type 2JJ

A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chrom

A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.

Signs and symptoms

• Achilles tendon contracture
• Impaired vibration sensation in the lower limbs
• Difficulty climbing stairs
• Fatty replacement of skeletal muscle
• Decreased sensory nerve conduction velocity
• Impaired pain sensation
• Pes cavus
• Gait disturbance
• Impaired distal tactile sensation
• Hip flexor weakness

Also known as: axonal Charcot-Marie-Tooth disease type 2JJ