As a parent, it can be concerning when your child experiences frequent trips and falls, has trouble with balance, or struggles with tasks like buttoning clothes or holding a pencil. If you’ve noticed these challenges, they could be signs that your child is suffering from Charcot-Marie-Tooth (CMT) disease. 

CMT is a condition that affects the nerves in the arms and legs, making movement and coordination more difficult over time. It is a genetic disorder, meaning it runs in the family and affects approximately one in 2,500 people worldwide. If your child is diagnosed with CMT, understanding the condition can help provide adequate support and ensure the best quality of life for your baby. 

What Causes Charcot-Marie-Tooth Disease?

Charcot-Marie-tooth disease is caused by genetic mutations affecting the peripheral nerves, which send signals between the brain, spinal cord, and muscles. These mutations lead to nerve damage, making it harder for muscles to function correctly. In most cases, CMT is inherited from one or both parents.  CMT inheritance patterns include:

• Autosomal dominant inheritance: A single copy of the mutated gene from either parent can cause the disease.
• Autosomal recessive inheritance: This is whereby both parents carry and pass on the mutated gene.
• X-linked inheritance: This is whereby the mutated gene is located in the X chromosome and often affects males as they carry only one X chromosome. Females are carriers.

Recognizing Symptoms in Children

The symptoms of charcot-marie-tooth disease vary among individuals, even within the same family. Here are the common signs to watch out for in your child:

• Muscle weakness: Weakness often begins in the lower legs and feet, leading to difficulty walking, frequent tripping, and trouble with balance.
• Foot deformities: Your child may develop flat feet, high arches (pes cavus), or hammertoes due to muscle imbalances.
• Clumsiness and coordination issues: Difficulty with tasks that require fine motor skills, such as buttoning clothes or holding small objects.
• Loss of sensation: Reduced ability to feel temperature, pain, or touch in the feet and hands.
• Fatigue: A child with CMT often experiences tiredness due to the additional effort needed for movement.
• Curved spine (Scoliosis): Some children often develop Scoliosis due to muscle imbalances.
• Tingling and numbness: Some children may experience tingling sensations in their hands and feet, which often worsen over time. 

It is worth noting that the progression and severity of CMT symptoms can vary. Some children may experience mild symptoms that remain stable, while others have pronounced challenges that worsen over time. 

Diagnosing Charcot-Marie-Tooth Disease 

If your child shows symptoms of CMT, consider consulting a doctor to confirm the diagnosis. The diagnostic process may include:

• Family history review: Charcot-Marie-tooth is a genetic disorder. Having your doctor familiarize themselves with family history can provide valuable insights into the likelihood of your child having inherited the condition.
• Neurological examination: The doctor will perform a neurological test to assess your child’s muscle strength, reflexes, and sensory responses.
• Nerve conduction studies (NCS): This test measures the speed of electrical signals traveling through nerves.
• Electromyography (EMG): This test examines nerve and muscle function.
• Genetic testing: These are blood tests designed to identify genetic mutations responsible for CMT.
• MRI scans: Your doctor may request to perform an MRI scan to rule out other neurological conditions.

Be sure to see your doctor as soon as you notice any symptoms of CMT. Early diagnosis is crucial for managing the condition effectively and implementing appropriate interventions.

Managing and Treating Charcot-Marie-Tooth Disease 

While there’s no cure for CMT, several management strategies can help improve your child’s quality of life. Follow up with your healthcare provider to monitor progression and adjust treatment plans. Below are CMT management and treatment options:

Physical Therapy 

Investing in physical therapy is an excellent way to manage your child’s CMT condition. Encourage strengthening exercises, stretching, and balance routines to help maintain mobility and prevent complications like joint contractures.

Occupational Therapy 

If your child is diagnosed with CMT, they may struggle with fine motor skills needed for writing, using utensils, or dressing. Occupational therapy can help your child develop adaptive techniques to perform daily tasks more efficiently. Be sure to work with an experienced therapist specializing in CMT to help your child get a personalized treatment plan.

Orthopedic Therapy

Invest in braces, custom footwear, and orthotics to stabilize and improve mobility. If your child is struggling with a severe case of CMT, surgery can help correct foot deformities or scoliosis.

Pain Management 

Some children with CMT experience pain, cramps, or muscle fatigue. Consider helping your child manage this pain through:

• Medications like anti-inflammatory drugs or nerve pain treatments
• Regular stretching and massage therapy
• Hydrotherapy (water therapy) to ease muscle stiffness
• Alternative therapies such as acupuncture and electrical nerve stimulation 

Assistive Devices

Devices such as ankle-foot orthoses (AFOs), crutches, and wheelchairs can help your child move around more comfortably and independently.

How to Support Your Child Emotionally and Socially 

A CMT diagnosis can be emotionally challenging for you, your child, and your family. Here’s how you can support your child’s emotional and social well-being:

• Open communication: Encourage your child to express their feelings and concerns 
• Peer support: Connect with support groups or networks where your child can meet others facing similar challenges.
• Counseling: Investing in professional counseling can help address emotional difficulties and develop coping strategies.
• Education: Provide age-appropriate information about Charcot-Marie-tooth disease to help your child understand their condition.  You could also educate your child’s teachers and peers about the disease to create an inclusive and understanding environment at school. 
• Reintegration: Offer your child a sense of normalcy by encouraging participation in hobbies and social activities.

Educational Considerations 

If your child is diagnosed with Charcot-Marie-tooth disease, they may face challenges in educational settings due to muscle weakness, fatigue, or mobility limitations. These difficulties can impact their ability to keep up with daily school activities, from moving between classrooms to participating in physical education (PE) or writing assignments. Consider collaborating with educators to develop Individualized Education Plans (IEPs) or 504 plans that accommodate your child’s needs. These include:

Modified Physical Education 

Regular physical activities can be challenging for your child due to muscle weakness, balance issues, and fatigue. This is because they involve strenuous exercises, running, or activities that require strong coordination, which can lead to discomfort, pain, or an increased risk of injury. Modified physical education allows your child to engage in: 

• Low-impact activities: Encourage swimming, yoga, stretching, or modified exercises that build strength without overexertion.
• Alternative sports: Allowing participation in non-strenuous sports like table tennis or adapted cycling.
• Pacing and rest breaks: This involves giving your child frequent breaks to prevent fatigue.
• Adaptive equipment: Using braces, orthotics, or modified sports gear for better support.
• Non-competitive options: Encouraging participation in activities focusing on fun and inclusion rather than competition.

Classroom Accessibility 

Most kids with CMT experience difficulties with mobility, fine motor skills, and prolonged sitting. Schools should ensure the learning environment is physically accessible, comfortable, and inclusive. Here’s how to improve classroom accessibility:

• Seating arrangements: This involves providing ergonomic seating that supports posture and comfort.
• Navigable school layout: Ensuring hallways, staircases, and doorways are wide enough for walkers, braces, or wheelchairs.
• Accessible desks and equipment: Adjustable-height desks and chairs for better posture and comfort. Schools could also introduce voice-to-text software or speech-to-text programs for students who struggle with writing.
• Modified school schedules: This involves reducing the number of classroom transitions to limit excessive walking.
• Alternative transportation options: Schools may provide special transportation or allow children to leave class earlier to avoid crowded hallways.

Charcot-Marie-tooth disease is a lifelong condition that presents a lot of challenges. However, with early diagnosis, proper medical care, and the right support systems, your child can lead a fulfilling life. Stay informed, work closely with doctors and educators, and foster a supportive environment to help your child navigate daily life with confidence and independence.