Charcot-Marie-Tooth

Plain-language definition

Most common hereditary neuropathy. Progressive peripheral nerve damage requiring regular physiotherapy follow-up.

Signs and points requiring attention

• Progressive distal muscle weakness: begins in foot muscles (foot drop, difficulty lifting the foot) and calves, then reaches the hands (fine motor difficulties). Evolution is slow but continuous over decades.
• Characteristic muscle atrophy: 'stork leg' appearance (thin calves), claw hands, high-arched feet (pes cavus) with hammer toes. These deformities worsen without orthopedic and physiotherapy management.
• Associated sensory disorders: decreased superficial and deep sensitivity (proprioception), which can cause balance disorders, unnoticed foot injuries, and fine coordination difficulties.
• Frequent chronic fatigue: related to permanent compensation of deficits, it significantly impacts quality of life and must be taken into account in the rehabilitation program.

• Unnoticed foot injuries: inspect feet daily (mirror if necessary), wear adapted footwear, never walk barefoot. Risk of ulcers if wounds go unnoticed.
• Unusually rapid worsening: CMT evolution is normally very slow. Rapid deterioration should prompt investigation for an additional cause (nerve compression, other neuropathy).
• Repeated falls: signal worsening balance requiring reevaluation. Risk of trauma, review of bracing and rehabilitation program.

Assessment and care

• Adapted muscle strengthening program: work on still-functional muscles to compensate for deficits, low-load exercises with many repetitions, avoiding excessive fatigue which can temporarily worsen symptoms.
• Deformity prevention and treatment: daily stretching of retracted muscles (calves, toe flexors), joint mobilizations, postural work, in coordination with orthopedic bracing.
• Balance and gait rehabilitation: intensive proprioceptive work, exercises on unstable surfaces, walking with and without assistive devices, fall prevention, training for varied terrain management.
• Maintenance of hand functional capabilities: fine motor exercises, intrinsic muscle strengthening, complementary occupational therapy to adapt daily and professional activities.

This information does not replace diagnosis or medical consultation.