Overview
Definition
A heterogeneous group of inherited peripheral neuropathies characterized by progressive distal muscle weakness, muscle wasting, and sensory loss.
Epidemiology
The most common inherited neuropathy, affecting ~1 in 2,500 people.
Etiology & Risk Factors
- Genetic mutations (most commonly PMP22 gene duplication in CMT1A) affecting myelin or axonal proteins
Clinical Symptoms
- Foot drop and frequent tripping
- High-arched feet (pes cavus) and hammer toes
- 'Stork leg' or 'inverted champagne bottle' leg appearance (distal muscle wasting)
- Weakness in hands (clumsiness, difficulty writing)
- Distal sensory impairment
Clinical Approach
Diagnosis
- Clinical exam
- Nerve conduction studies (slowed conduction velocity in demyelinating CMT)
- Genetic testing (definitive)
Management
- Physical therapy and orthotic devices (AFOs - ankle-foot orthoses)
- Surgical correction of severe skeletal deformities (pes cavus)
- Pain management
Complications
- Scoliosis
- Severe mobility impairment
- Recurrent foot injuries and neuropathic ulcers