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Gillette Children’s Specialty Healthcare offers one of the region’s top neuromuscular programs. In fact, Gillette has one of the largest teams of pediatric neurologists and neurosurgeons in the Twin Cities. Our specialists work closely with patients and families to create customized care plans for the treatment of Charcot-Marie-Tooth disease.
Why Choose Gillette?
- Our Neuromuscular Clinic experts—including neurologists, rehabilitation medicine specialists, cardiologists, pulmonologists, geneticists and orthopedists—have experience treating complex conditions such as Charcot-Marie-Tooth disease.
- We use state-of-the-art diagnostic tools to identify specific disorders and establish customized treatment plans.
- We offer supportive treatments, including rehabilitation therapies, assistive technology and medication.
- We collaborate with researchers worldwide to identify the latest advances in care.
- We believe that people who have Charcot-Marie-Tooth disease deserve a lifetime of excellent health care.
Charcot-Marie-Tooth (CMT) disease is a group of disorders that damage nerves in the legs and arms (the peripheral nerves). CMT typically affects the nerves that control movement and sensation, resulting in muscle weakness, atrophy and loss of sensation. CMT also affects vital cells that support and protect nerves. As a result, muscle tissue begins to waste and weaken.
Types of Charcot-Marie-Tooth Disease
CMT is caused by mutations in different genes. Based on the affected gene, CMT is generally categorized into the following types.
This form of CMT progresses slowly and causes muscle weakness, muscle atrophy and loss of sensation. CMT1 typically develops in the first or second decade of life. It is the most common form of CMT and is dominantly inherited, meaning that only one parent must have the abnormal gene to pass the condition on to a child.
Similar to CMT1, CMT2 also causes damage to the peripheral nerves, although this form of the condition is usually less severe. CMT2 typically develops later in life than CMT1 does.
Congenital Hypomyelinating Neuropathy (CHN), Type 3 CMT or Dejerin-Sottas Disease
This form of CMT progresses slowly and usually develops before age 3. It affects the formation of myelin, an insulating coating of the nerve fibers. CHN is typically quite severe, causing profound disability, loss of sensation, scoliosis and sometimes mild hearing loss.
This type is often more severe and the onset is earlier. Many people who have CMT4 also have hammertoes, develop scoliosis or have difficulty walking. Symptoms include loss of sensation in the lower limbs, muscle weakness, lower leg muscle atrophy, hand atrophy and foot deformities.
This form of CMT causes moderate to severe impairments to movement and sensation. It occurs more often in males than in females.
Charcot-Marie-Tooth Disease Symptoms and Effects
The symptoms of CMT can range from mild to severe. They usually begin in adolescence or early adulthood.
Some of the most common are:
- Muscle weakness and muscle atrophy in the feet and lower legs
- High-stepped gait
- Frequent tripping or falling
- Foot deformities, such as high arches or hammertoes
- Muscle weakness and muscle atrophy in the hands and arms as the disease progresses
- Mild hearing loss in more severe forms of CMT
Charcot-Marie-Tooth Disease Causes and Risk Factors
Charcot-Marie-Tooth disease is the most commonly inherited disorder that damages the nerves, affecting one in every 2,500 U.S. children. The most common cause of the disease (70 to 80 percent of cases) is the duplication of a portion of chromosome 17.
Charcot-Marie-Tooth Disease Tests and Treatments
It’s important to obtain an accurate diagnosis as soon as CMT is suspected. Early treatment can help patients avoid some secondary effects of the condition. CMT is usually diagnosed using the following tests.
- Physical examination of muscle mass, reflexes, sensory abilities and foot deformities
- Nerve conduction studies that measure electrical signals produced by the nerves
- Electromyography (EMG), a measurement of electrical activity while muscles are relaxed and contracted
- Nerve biopsy, a laboratory analysis of a small piece of the nerve
- Genetic and DNA testing of a blood samples analyzed to determine genetic abnormalities responsible for CMT
Below are the most common methods of treatment for CMT.
Some people who have CMT experience pain caused by muscle cramps and nerve damage. Prescription medication might alleviate and control pain.
Physical therapy can help prevent muscle loss and strengthen muscles. It can be critical to preventing additional nerve damage and deterioration.
CMT usually begins with muscle weakness in the feet and legs, but often moves later into the arms and hands, resulting in challenges with writing, grasping or other tasks. Occupational therapy helps strengthen the muscles used for these tasks and helps people who have CMT adapt to damaged nerves.
Orthopedic devices—such as custom fitting shoes, grips or braces—can provide stability and help make daily tasks easier.
Although surgery can’t help with loss of sensation or muscle weakness, it can help stabilize foot deformities. Surgery also can alleviate pain and improve walking abilities for people who have severe foot deformities caused by CMT.
Our Charcot-Marie-Tooth Disease Services
Once Gillette specialists diagnose CMT, our team works with patients and their families to create customized treatment plans that address each patient’s needs. Because there is no cure for CMT, regular checkups are important for treating symptoms and preventing additional complications.
Patients who have CMT often see experts in these specialties and services:
- Rehabilitation medicine
- Medical genetics and genetic counseling
- Pulmonology and respiratory care
Rehabilitation Therapies and Technology Services
- Occupational therapy
- Physical therapy
- Speech and language therapy
- Seating and mobility
- Assistive technology
- Child life specialists
- Social workers
- Therapeutic recreation specialists
For more information about the care we offer at Gillette, search Conditions and Care.
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