Charcot-Marie-Tooth disease, often called CMT, is a group of inherited neurological disorders that affect the peripheral nerves—the nerves outside the central nervous system organs of your brain and spinal cord. Peripheral nerves are responsible for carrying signals from your brain to your muscles, telling them to move, and also for carrying sensory information like touch, pain, and temperature back to your brain.
CMT can affect the health and structure of peripheral nerves in several ways, leading to many possible symptoms from a variety of underlying causes. The condition is caused by genetic mutations that can come from one or both parents.
There is no cure for CMT, and it cannot be prevented. However, this diagnosis does not mean giving up on an active, fulfilling life. Treatment and management strategies can significantly improve symptoms and enhance quality of life. Many people with CMT live well with the help of a comprehensive care plan, which often includes supportive devices designed to manage symptoms and maintain mobility.
Symptoms of Charcot-Marie-Tooth disease
The symptoms of CMT and their severity can vary widely from person to person, even among family members with the same type of the disease.
Symptoms usually appear in adolescence or early adulthood, but they can also develop in mid-life. Common signs and symptoms include:
- Weakness in the feet and lower legs: This is often one of the first signs of CMT. It can cause foot drop, which is difficulty lifting the front part of the foot, leading to tripping and an unsteady gait.
- Foot deformities: High arches and hammertoes (toes that are bent at the middle joint) are common symptoms that may cause discomfort or shoe-fitting issues.
- Loss of muscle in the lower legs: The pattern of muscle loss in CMT is often described as an inverted champagne bottle.
- Numbness or loss of sensation: You might experience reduced ability to feel heat, cold, and touch in your feet and hands.
- Balance problems: Underlying symptoms such as muscle weakness and loss of sensation can make it difficult to maintain balance.
- Decreased reflexes: A gradual loss of reflexive motions and sensations.
- Pain: Burning, tingling, and “pins and needles” pain are common symptoms of nerve damage and/or degradation.
- Hand weakness and fine motor skill difficulties: As the disease progresses, it can affect fine motor skills, making tasks like buttoning a shirt or writing difficult.
Diagnosing CMT
Receiving an accurate diagnosis is the first and most critical step toward managing CMT effectively. The diagnostic process often provides the necessary documentation for health insurance verification, which can help cover the costs of treatment both now and in the future.
The journey to a diagnosis typically involves several of the following possible steps:
- Medical and family history: Your doctor will begin by asking detailed questions about your symptoms and your family's medical history, since CMT is an inherited condition.
- Neurological examination: A neurologist may conduct a thorough physical exam to check for muscle weakness, decreased muscle bulk, reduced reflexes, and sensory loss. They will also look for characteristic foot deformities.
- Nerve conduction studies (NCS): These types of tests measure the strength and speed of electrical signals traveling through your nerves. Electrodes are placed on the skin over a nerve, and a small electrical impulse is used to stimulate the nerve. Slower or weaker responses can indicate CMT.
- Electromyography (EMG): This test involves inserting a small needle electrode into a muscle to measure its electrical activity. It can help distinguish between nerve disorders and muscle disorders.
- Genetic testing: A blood test can be run to identify the specific genetic mutation that causes CMT. This test can confirm the diagnosis and determine the type of CMT you have, which can be helpful for prognosis and family planning.
- Nerve biopsy: In some cases, a doctor may take a small sample of a peripheral nerve for examination under a microscope. This is less common now that genetic testing is widely available.
How to treat and live with Charcot-Marie-Tooth disease
Living with CMT often requires a proactive approach to managing your health. While Charcot-Marie-Tooth disease presents challenges, it doesn’t mean the end of all the activities you currently enjoy.
A comprehensive care team may include a neurologist, a podiatrist, and physical and/or occupational therapists.
Treatment for CMT focuses on managing symptoms and maintaining function. Common approaches include:
- Physical therapy: Regular, low-impact exercise can help maintain muscle strength, flexibility, and mobility. A physical therapist can design a personalized program that is safe and effective for the current progression of your disease.
- Occupational therapy: An occupational therapist can help you find ways to perform daily activities more easily. They may recommend assistive devices and modifications to your home or workplace.
- Pain management: Various medications and therapies can help manage nerve pain and other types of discomfort.
- Supportive devices: Medical devices are often essential for improving mobility and preventing injury. These can include braces, splints, and custom orthotics.
The role of custom orthotics in CMT treatment
Custom orthotics are personalized medical shoe inserts designed to support the unique structure of your feet. For individuals with CMT, orthotic insoles are a key daily support device for the feet and lower extremities.
Custom orthotics can help manage CMT symptoms in several ways:
- Improved stability and balance: By providing targeted support and correcting foot misalignment, orthotics can help reduce unsteadiness and lower the risk of falls.
- Pain relief: Orthotics redistribute pressure across the foot, relieving stress on painful areas, and reducing strain on the joints.
- Support for foot deformities: For common CMT-related issues like high arches and hammertoes, custom orthotics can provide the necessary support to improve comfort and function while wearing any kind of shoe.
- Shock absorption: Our orthotics are made of durable materials that help absorb the impact of walking and other activities, reducing overall fatigue and stress on lower-body joints.
- Enhanced gait: Orthotics can help you walk with a more natural and efficient gait, reducing the effort required to move.
Biocorrect is a provider of orthotics for Charcot-Marie-Tooth disease
A diagnosis of Charcot-Marie-Tooth disease can feel overwhelming, but you don't have to navigate this journey alone. With the right support system and a proactive care plan, you can continue to move through life with confidence and comfort.
At Biocorrect, we understand the unique challenges that come with CMT. Our team is dedicated to creating custom orthotics that provide the best possible support for your feet without bulky ankle braces. We believe that with the right foundation, you can better manage your symptoms and maintain your mobility.
Get started today with an in-person or virtual appointment by calling our team at 616-356-5030 or by requesting an appointment online today.
