autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis

A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24.

Signs and symptoms

• Impaired distal tactile sensation
• Onion bulb formation
• Areflexia
• Proximal lower limb muscle weakness
• Proximal upper limb muscle weakness
• Impaired distal vibration sensation
• Impaired pain sensation
• Hoarse voice
• Decreased motor nerve conduction velocity
• Pes cavus