Charcot-Marie-Tooth disease type 2D

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene.

Signs and symptoms

• Distal amyotrophy
• Hyporeflexia
• Scoliosis
• Pes cavus
• Upper limb muscle weakness
• Distal muscle weakness
• First dorsal interossei muscle weakness
• Thenar muscle atrophy
• Postural instability
• Distal sensory impairment

Also known as: CMT2D; Charcot-Marie-Tooth disease neuronal type 2D; Charcot-Marie-Tooth neuropathy type 2D; autosomal dominant Charcot-Marie-Tooth disease type 2D