Charcot-Marie-Tooth Disease

Contents

Presentation
Pathology
Management
References
Related Articles

An inherited peripheral neuropathy. Various forms of inheritances, the most common is autosomal dominant. Can also be passed on in autosomal recessive and X-linked patterns. In rare instances it may be sporadic.

Sometimes called hereditary motor and sensory neuropathy (HMSN), or peroneal muscular atrophy.

Presentation

Usually in puberty, can be between the ages of 10 and 30
Progressive distal muscle weakness and wasting
Foot drop / high stepping / foot slapping gait
Hammer toe – the toes are always curled
Variable loss of reflexes and other sensory signs
May progress to hands, arms and face later in the disease. Changes in the arms are similar to those seen in the legs, and occur later in the disease.
- In some, the diaphragm may be affected, making breathing difficult
- Rarely it may affect vision, hearing and balance
Pes cavus – an exaggerated arch of the foot – develops over time
Reduced mobility over time
Normal tone, but slight reduced power – although strength normally remains reasonable
Prevalence – 37 per 100 000 (roughly 1 in 2500)
Champagne bottle legs appearance – as the result of peroneal muscle wasting, the legs appear like inverted champagne bottles
Often disabling, but rarely causes total paralysis
May respond to surgery
Patients may have scars across the dorsum of the toes, and under the arch of the foot, where they have had corrective surgery for foot deformities.

Pathology

The result of dysfunctional genes that code for proteins in the myelin sheath (Type I), or more rarely in the axonal mirochondria of the nerve fibre itself (Type II).