Charcot-Marie-Tooth Disease

What is Charcot-Marie-Tooth Disease?

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders. Named after the three physicians who first described it in 1886—Jean-Marie Charcot, Pierre Marie, and Howard Henry Tooth, it is one of the most common inherited neurological disorders

CMT primarily affects the peripheral nerves, which are responsible for relaying information between the brain, spinal cord, and the rest of the body. These nerves control voluntary muscle movements and sensory information, such as touch, pain, and temperature. When affected by CMT, the peripheral nerves deteriorate, leading to muscle weakness, atrophy, and loss of sensation, particularly in the legs and arms.

There are several types of CMT, classified based on the genetic cause and pattern of nerve damage. The most common forms are CMT1, which involves abnormalities in the myelin sheath (the protective covering of the nerves), and CMT2, which involves direct damage to the nerve axons.

What Causes Charcot-Marie-Tooth Disease?

CMT is a genetic disorder, typically inherited in an autosomal dominant pattern, meaning a child only needs to inherit one copy of the defective gene from one parent to develop the condition. However, it can also be inherited in autosomal recessive and X-linked patterns. Mutations in various genes involved in the structure and function of peripheral nerves cause the disease.

These genetic mutations lead to the malfunction or degradation of the peripheral nerves, disrupting their ability to transmit signals effectively. The specific symptoms and severity of the disease can vary widely.

How Dangerous is Charcot-Marie-Tooth Disease for My Child?

The severity of CMT can vary widely, even among individuals with the same type of the disease. For most children, CMT is not life-threatening, but it can significantly impact their quality of life. 

Symptoms usually appear in adolescence or early adulthood, but they can start at any age. Early signs include muscle weakness in the feet and lower legs, foot deformities (such as high arches or hammertoes), scoliosis and difficulty walking. As the disease progresses, children may experience weakness in their hands and forearms, loss of balance, and sensory deficits.

 While CMT can be disabling, many individuals with the condition lead full, productive lives with appropriate management and support.

Which Children are at Greater Risk for Charcot-Marie-Tooth Disease?

Children with a family history of CMT are at a higher risk of inheriting the disease. Given its genetic nature, if one parent has an autosomal dominant form of CMT, their child has a 50% chance of inheriting the condition. Genetic testing can identify mutations associated with CMT, providing more information about a child’s risk. However, spontaneous mutations can also occur, meaning that CMT can sometimes appear in children with no family history of the disease.

How is Charcot-Marie-Tooth Disease Managed?

While there is currently no cure for CMT, various treatments and interventions can help manage the symptoms and improve quality of life. 

• Physical Therapy: Tailored exercise programs can help maintain muscle strength, improve flexibility, and enhance balance and coordination. Physical therapy can also help delay or prevent the progression of muscle atrophy and joint deformities.
• Occupational Therapy: Occupational therapists can provide strategies and tools to assist with daily activities, improving independence and quality of life.
• Orthopaedic Devices: Braces, orthotics, and custom footwear can help support weakened muscles, improve walking, and prevent injuries.
• Medications: Pain management may involve medications to alleviate nerve pain and muscle cramps.
• Surgical Interventions: In some cases, surgery may be necessary to correct severe foot and spine deformities.
• Genetic Counselling: Families can benefit from genetic counselling to understand the inheritance patterns, risks, and implications for family planning.

What Should I Know as a Parent?

• As a parent of a child with CMT, understanding and accepting the diagnosis is the first step. Educate yourself about the disease and stay informed about new research and treatments. Ensure regular follow-ups with healthcare providers specialising in neurology and genetics.
• Support your child’s emotional and psychological well-being. Encourage participation in physical activities that are safe and enjoyable, and foster an environment where your child feels empowered and supported.
• Children with CMT can lead active, fulfilling lives. Advocate for your child within the educational system to ensure they receive the necessary accommodations. Building a network of support from other families facing similar challenges can provide invaluable emotional and practical support.