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.
- 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.
- Patients advised to stay active, and do exercise
- Hydrotherapy may help
- Advised to keep weight low, to reduce the risk of mobility problems
- Trails on the use of ascorbic acid (vit C) are underway to assess its efficacy
- Genetic testing can reveal if children and relatives are at risk
- Surgery can reduce deformity (e.g. of clawed toes and pes cavus)