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Understanding Charcot-Marie-Tooth Disease: Symptoms, Diagnosis, and Treatment Options

Alan Lucks | MD

Medically reviewed by Alan Lucks | MD, Alan Lucks MDPC Private Practice - New York on September 8th, 2023.

Key Takeaways

  • Over 90 different genetic mutations cause this inherited disorder, with CMT1A (chromosome 17 duplication) accounting for roughly 70% of all cases and following autosomal dominant inheritance patterns.

  • Symptoms typically emerge before age 20, starting with high-arched feet (pes cavus) and hammertoes, progressing to foot drop that creates a characteristic high-stepping gait.

  • Nerve conduction studies show dramatically slowed signals—motor velocities below 38 m/s indicate demyelinating types, while normal speeds with reduced amplitudes suggest axonal forms.

  • Physical therapy focusing on ankle flexibility and strengthening can slow progression, while ankle-foot orthoses (AFOs) prevent tripping and reduce energy expenditure by up to 20% during walking.

  • Genetic counseling reveals each child of an affected parent has a 50% inheritance risk for dominant types, making family planning discussions crucial for reproductive decisions.

Charcot-Marie-Tooth (CMT) Disease is a group of genetic disorders that affect the peripheral nerves, those nerves that lie outside of the brain and spinal cord. Named after the three doctors who first identified the condition in 1886, CMT can cause various symptoms, including foot problems and difficulty with balance. This article will provide an overview of CMT, including its causes, symptoms, diagnosis, and treatment options.

What Causes Charcot-Marie-Tooth Disease?

CMT is genetic and is passed down from parents to children through their DNA. The condition is not contagious. Researchers have discovered over 90 genetic types of CMT, each caused by specific genetic mutations. These mutations affect the way nerve cells communicate with each other, eventually leading to the deterioration of the nerves over time. As a result, individuals with CMT may experience weakness and reduced sensation in affected areas.

Symptoms of Charcot-Marie-Tooth Disease

Symptoms of CMT typically begin to appear before the age of 20. Some common signs and symptoms include:

  • High arches in the feet

  • Hammertoes (bent toes)

  • Difficulty walking and maintaining balance

  • Foot drop (inability to lift the foot properly)

  • Slapping gait (foot slapping against the floor while walking)

  • Muscle loss in the lower legs

  • Numbness in the feet and legs

As the condition progresses, it may also affect the hands and arms. Despite these challenges, people with CMT can often lead long and fulfilling lives.

Understanding Charcot-Marie-Tooth Disease: Symptoms, Diagnosis, and Treatment Options

Diagnosing Charcot-Marie-Tooth Disease

If you experience symptoms of CMT, it is essential to consult with your doctor. They may refer you to a neurologist, a specialist in the nervous system, for further evaluation. The diagnostic process typically involves:

  1. Taking a family history

  2. Assessing symptoms

  3. Conducting physical examinations, such as walking on heels or testing muscle reflexes

  4. Performing a nerve conduction velocity test to evaluate nerve function

  5. Conducting electromyography to assess electrical activity in muscles

  6. Ordering a DNA blood test to identify specific gene mutations

Treatment Options for Charcot-Marie-Tooth Disease

Although there is no cure for CMT, various treatment options can help manage the condition and improve quality of life. These include:

  • Foot care: Regular foot checks, proper nail trimming, and wearing appropriate footwear can help prevent complications.

  • Physical therapy: Stretching and strengthening exercises, along with low-impact activities like swimming and cycling, can help maintain muscle function and flexibility.

  • Occupational therapy: Specialists can provide training to improve strength, grip, and flexibility, making everyday tasks easier to perform.

  • Assistive devices: Leg braces, custom footwear, and other orthotics can provide support and improve mobility.

  • Medication: Pain relievers and other medications can help manage pain and muscle cramps associated with CMT.

  • Surgery: In some cases, surgery may be recommended to address foot and joint problems.

It is important to work closely with your healthcare team to develop a personalized treatment plan that addresses your specific needs and goals. Additionally, seeking support from organizations like the Charcot-Marie-Tooth Association and the Muscular Dystrophy Association can provide valuable resources and connect you with others living with CMT.

Potential Complications of Charcot-Marie-Tooth Disease

While CMT primarily affects the nerves and muscles, it can also lead to other complications, such as:

  • Breathing and swallowing difficulties

  • Increased risk of infection due to numbness in the feet

  • Hip dysplasia (misalignment or poor development of the hips)

  • Pregnancy complications

Regular check-ups with your healthcare team can help identify and address these complications early on, ensuring the best possible outcomes.

In conclusion, Charcot-Marie-Tooth Disease is a complex genetic disorder that affects the nerves and muscles. By understanding the causes, symptoms, and treatment options available, individuals with CMT and their families can work together with healthcare professionals to manage the condition and maintain a high quality of life. For more information on CMT, visit reputable sources such as the National Institute of Neurological Disorders and Stroke.

The Bottom Line

Early intervention with proper bracing and therapy can significantly preserve mobility and independence as this progressive condition advances. Regular monitoring helps catch complications like scoliosis or breathing difficulties before they become severe. If you're noticing balance problems, foot deformities, or have a family history of these symptoms, Doctronic can help you get proper evaluation and genetic testing.

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