First described as peroneal muscle atrophy, Charcot Marie Tooth disease is characterized by distal limb muscles wasting and weakness usually with skeletal deformities, distal sensory loss and abnormalities to the deep tendon reflexes. It is a group of conditions that affect the peripheral nervous system. It is the most common inherited neuromuscular disorder at approximately 1 in 2500 people being diagnosed with it. It occurs when there genes involved in different functions mutate and lead to degeneration. To classify this disease, nerve conduction studies are important for classification, diagnosis and understanding of the pathophysiology involved.
CMT symptoms often begin in adolescence or childhood, but may go undetected into adulthood. It is rarely life-threatening but occasionally affects the muscles in the chest which leads to respiratory problems.
The symptoms of CMT may include any combination of the following:
- Muscle weakness in the extremities
- Foot drop
- Ankle sprains/fractures
- Trips and falls
- Abnormal gait
- Extremely high arch (pes cavus)
- Reduced sensation in the feet and lower legs
- Poor balance
- Pain in the nerves (neuropathic pain)
To diagnose this condition and identify the painful structures or structures effected, we will conduct an in-depth assessment, including:
- Thorough history
- Strength and range of motion testing
- Biomechanical and gait assessment
- Evaluation of work, leisure activities and training programs that may exacerbate the condition
- Evaluation of footwear
- Referral for appropriate imaging (x-ray, ultrasound, MRI, CT etc.).
While there is no effective treatment available for any form of Charcot Marie Tooth disease, treatment plans are based on finding symptomatic relief and often include one, or a combination of the following:
- Exercise therapy inclusive of muscle strengthening and stretching to promote foot and ankle function, by maintaining strength in weakened muscles and address tight muscles to help support foot and ankle function
- Surgical intervention- orthopedic surgery may be indicated to help correct deformities and reposition elements of the foot.
- Orthotics to address related biomechanical factors such as muscle weakness and ankle instability
- Bracing of either the foot or ankle to improve instability and provide support
- Footwear modification
- Activity modification
It is important to commence treatment early as it is a progressive disease, meaning that it will not get better.