mitochondrial axonal Charcot-Marie-Tooth disease

A Charcot-Marie-Tooth disease characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur that has_material_basi

A Charcot-Marie-Tooth disease characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur that has_material_basis_in mutation in the MTTV gene, which is encoded by the mitochondrial genome.

Signs and symptoms

• Mitochondrial hypertrophy
• Fiber type grouping
• Sensory ataxia
• Pes cavus
• Decreased activity of mitochondrial complex III
• Decreased activity of mitochondrial complex I
• Decreased activity of mitochondrial complex IV
• Babinski sign
• Impaired vibratory sensation
• Impaired proprioception