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Charcot-Marie-Tooth (CMT)
Disease
What is CMT?CMT is a common neurological disorder which has a prevalence of 1 in 2,500 people.1 The disorder was named after three physicians (Jean-Martin Charcot, Pierre Marie and Howard Henry Tooth) who discovered the disease in 1886. The disorder is also known as Hereditary Sensory Motor Neuropathy (HMSN) or peroneal muscular atrophy. CMT affects the peripheral nerves which lie outside the brain and spinal chord. As a result, there is loss of muscle tissue and touch sensation in the limbs. Although CMT is known as a hereditary disorder, about one third of all patients have no family history.2 It may be difficult to distinguish CMT from other hereditary and autoimmune neuropathies based on symptoms due to clinical variability and genetic heterogeneity. Even within the same family, disease severity is highly variable. Some individuals may show minimal symptoms and are unaware of being affected, while others may have significant disabilities. Common Clinical Features3: - Muscles weakness in legs and feet
- Loss of muscle bulk in lower limbs
- Sensory loss in feet
- Foot Drop (inability to lift feet)
- Foot deformities (very high arched feet or flat feet)
- As disease progresses, similar symptoms may be seen in arms and hands.
Diagnosing CMT1: Neurologists diagnose CMT by: - Physical examination
- Medical history
- Electromyography and Nerve Conduction studies
- Genetic testing with a blood test
Treatment: Although there is no cure for CMT, patients can manage their symptoms through4: - Physical therapy and exercise
- Assistive devices (such as foot arthoses)
- Surgery
Proper foot care may help reduce ulcers and painful deformities in the feet. 4. Shy, M. Therapeutic strategies for the inherited neuropathies.2006. NeuroMolecular Medicine. 8:255-278
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