Charcot-Marie-Tooth disease is an inherited condition affecting nerves in your arms and legs. It can cause muscle weakness and movement problems.
What is Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth (CMT) disease is an inherited neurological disorder that affects the peripheral nerves (a network of nerves connecting the brain and spinal cord to the rest of the body). It results in muscle weakness and other symptoms in the arms and legs.
CMT occurs in approximately 3 million people worldwide* and has multiple classifications, as it is not a single disease but a group of conditions that are caused by mutations in more than 130 genes. AHN is here to help you navigate your diagnosis and help you find confidence in your care.
AHN Neuromuscular Program
At AHN, our Neuromuscular Program, which is part of the broader Neurology Department, is dedicated to helping patients with nerve and muscle conditions. We provide thorough diagnosis and treatment, offering complete care for various neuromuscular diseases.
Why choose AHN for your Charcot-Marie-Tooth disease treatment
The neuromuscular specialists at AHN have exceptional expertise in diagnosing and treating rare neuromuscular disorders. We use personalized CMT treatment plans to address your specific challenges and provide a wealth of support services to help you manage this condition.
Charcot-Marie-Tooth disease symptoms and signs
Symptoms of CMT disease often appear in adolescence or early adulthood and include:
- Foot dropping.
- Hammertoes.
- High-stepping gait (lifting one or both feet higher than normal when walking).
- Tripping and falling often.
- Weakness in your foot and lower leg muscles.
- Weakness or a loss of the fine motor skills in your arms and hands.
Charcot-Marie-Tooth disease screening and diagnosis
At AHN, we use the latest diagnostic tests to provide you with a precise diagnosis. After performing a thorough physical examination, your physician may recommend one or more tests.
Electromyogram (EMG)
This test measures the electrical activity of muscle. The EMG helps to assess whether the muscle weakness and atrophy (wasting) seen are due to a nerve problem rather than a primary muscle problem. It can show signs of chronic denervation (loss of nerve supply) and reinnervation in affected muscles.
Nerve conduction studies
A nerve conduction velocity test measures the nerves’ ability to send electrical signals. We often perform it along with an EMG to help determine whether symptoms are related to your nerves or muscles.
Genetic tests
These tests look for certain genetic mutations, which can determine whether a condition is inherited (passed down through your family). Genetic testing is the definitive diagnostic tool for Charcot-Marie-Tooth (CMT) disease. CMT is caused by mutations in a variety of genes. Blood or saliva samples are used to analyze a patient's DNA for these specific genetic changes.
Nerve biopsy
Nerve biopsies are less commonly performed due to more advanced options but they can help reveal valuable information about more complex cases of CMT. During the biopsy, a physician removes a tiny piece of peripheral nerve for further analysis in a laboratory to understand more about the diagnosis.
Types and stages of Charcot-Marie-Tooth disease
CMT is actually a family of conditions, not just one single disorder, and doctors group them based on how they affect your nerves and what genetic mistake is causing it. Your doctor will likely refer to the specific CMT disease type you are navigating, for example Charcot Marie disease type 1 is a common type.
Whichever CMT disease you may have, it affects your nerves. Think of your nerves like electrical cables; there’s a central wire called an axon that carries messages to other parts of the body like muscles, other neurons, and glands. There’s a protective coating around it called the myelin sheath, much like the insulation on a wire. CMT disease can damage either this wire or its insulation.
The most common CMT disease types involve damage to the nerve's insulation. If the myelin sheath is affected (known as demyelinating CMT, like Types 1 and 3), it's like the insulation on an electrical wire is frayed. The electrical signals still get through, but they slow down significantly. Charcot-Marie-Tooth disease Type 1 is the most common form, often starting in childhood or teenage years, making nerve signals travel slowly due to specific genetic errors. CMT3 is a more severe form that shows up very early in life, causing significant muscle weakness and extremely slow nerve signals.
Charcot-Marie-Tooth disease treatment
The neuromuscular specialists at AHN work with you to develop a CMT treatment plan that meets your changing needs over time. We offer a range of effective therapies to help you manage symptoms, reduce pain, and increase your muscle strength.
Your treatment plan may include one or more of the following:
- Physical therapy: Certain exercises or activities may strengthen your muscles and increase your stamina. Physical therapy can help you move and complete daily activities more easily. Our knowledgeable, caring physical therapists customize a physical therapy plan for you.
- Occupational therapy: The goal for occupational therapy is to improve independence in daily activities, especially when hand and arm weakness develops. Strategies and adaptive equipment can help with tasks like writing, buttoning clothes, gripping objects, and personal care.
- Orthopaedic devices: Devices such as ankle braces, high-top shoes, and hand splints can support you in everyday movements and help prevent injuries.
Charcot-Marie-Tooth disease FAQs
Understanding Charcot-Marie-Tooth (CMT) Disease will help you feel more confident in your care plan. AHN is here to help you get the information you need, so in addition to being available to answer your specific questions, we’ve also provided some of our patients’ most frequently asked questions.
What does Charcot-Marie-Tooth disease look like?
CMT disease symptoms primarily affect the peripheral nerves, which are the nerves outside of the brain and spinal cord. This means it often impacts the muscles in the feet, lower legs, hands, and forearms. You might observe changes like high arches in the feet, curled toes (hammertoes), or foot drop, which makes it hard to lift the front part of the foot. Over time, individuals with CMT disease may experience muscle weakness and wasting, leading to thin calves and sometimes thin hands. These changes usually develop gradually.
Is Charcot-Marie-Tooth disease painful?
Pain is a common experience for many individuals with CMT disease, though its intensity and type can vary greatly. The pain can stem from nerve damage itself (neuropathic pain), muscle cramps and spasms, or from joint strain due to muscle imbalance and changes in foot structure. Some people also experience discomfort from overusing unaffected muscles to compensate for weakened ones. Managing pain is an important part of living with CMT disease, and there are various strategies and CMT treatments available.
What are the long-term effects of Charcot-Marie-Tooth disease?
The long-term effects of CMT are progressive, meaning they tend to worsen over time, though the rate of progression varies significantly among individuals. CMT disease symptoms often include increasing muscle weakness and wasting, particularly in the lower legs and hands, leading to difficulties with walking, balance, and fine motor skills. Sensory loss, such as reduced sensation to touch, pain, and temperature, can also progress. Over time, joint deformities, like high arches and hammertoes, may become more pronounced. While CMT disease is rarely life-threatening, it can significantly impact mobility and daily activities, often requiring assistive devices like braces or wheelchairs in later stages.
What is it like to live with Charcot-Marie-Tooth disease?
Living with CMT disease means adapting to a condition that affects your strength, sensation, and mobility. Many people with CMT disease lead full and active lives, managing their symptoms with support from healthcare providers, physical and occupational therapists, and assistive devices. It often involves regular exercise to maintain muscle strength and flexibility, wearing custom orthotics or braces to aid walking, and sometimes undergoing surgery to correct foot deformities. Emotional support and connecting with others who have CMT disease can also be very beneficial in navigating the challenges of this chronic condition.
Why is it called Charcot-Marie-Tooth disease?
CMT is named after the three physicians who first described the condition in 1886: Jean-Martin Charcot and Pierre Marie from France, and Howard Henry Tooth from the United Kingdom. They independently recognized and documented the specific pattern of nerve damage and muscle weakness that characterizes this group of inherited disorders. Naming conditions after the pioneering scientists who discovered them was a common practice in medicine, and their contributions led to the identification and ongoing study of this complex neurological condition.
Contact us
To schedule an appointment or learn more about AHN neuroscience services, call 412-359-8850 if you’re in the Pittsburgh and surrounding region. Call 814-452-7575 if you’re in the Erie area.