Charcot-Marie-Tooth disease axonal type 2L

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene.

Signs and symptoms

• Decreased number of large peripheral myelinated nerve fibers
• Decreased amplitude of sensory action potentials
• Pes cavus
• Hyporeflexia
• Peripheral axonal neuropathy
• EMG: chronic denervation signs
• Distal amyotrophy
• Areflexia
• Distal muscle weakness
• Distal sensory impairment

Also known as: CMT2L; Charcot-Marie-Tooth neuropathy axonal type 2L; autosomal dominant Charcot-Marie-Tooth disease type 2L; autosomal dominant axonal Charcot-Marie-Tooth disease type 2L