Today, I am sharing a guest post written by CK Harrington about Charcot-Marie-Tooth (CMT) disease.
Ck Harrington is a content writer for CMTA USA. With the ultimate goal of finding a cure, CMTA is a 501(c)(3) nonprofit and leading research organization for treating and curing CMT. Check out the “Ask the Expert” page to learn more about CMT. If you want to contribute to CMTA, please check out the
“Get Involved” page.
What is Charcot-Marie Tooth (CMT) Disease? Day-to-Day Living and Relief Strategies
Intro to CMT
Pronounced: (shar-ko¯’ mä-re´ tooth), Charcot-Marie-Tooth (CMT) disease is a group of inherited neurological disorders that cause neuropathy, chronic pain, muscle weakness, sensory loss, and other symptoms. It is the most commonly inherited peripheral neuropathy affecting roughly 3 million people worldwide.
CMT is a genetically inherited autosomal dominant pattern disease. This means people can inherit CMT if only one parent carries the abnormal gene. People who may have the genetic abnormalities and who do not develop CMT symptoms are called carriers. They may pass the abnormal gene to their children, who can then develop symptoms. The incidence of CMT does not make exceptions for race, gender, or ethnicity. While exceptionally rare, some cases of CMT are caused by non-hereditary genetic mutations, even if both parents are not carriers.
Symptoms of Charcot-Marie-Tooth Disease
CMT affects muscles and the nervous system in various ways and can cause distinctive symptoms. Muscles affected by the disorder may become weak, but the weakness is usually not enough to prevent daily tasks. It is more common for muscle weakness to occur in the legs and can affect one or both legs.
At first, the disease affects muscles that control standing and walking. The first symptoms of CMT are usually toe-walking, tripping, frequent ankle sprains, and “burning” or pins-and-needles sensations in feet or hands. As it progresses, people with CMT may have difficulty moving other muscles in their arms and hands. They may also lose feeling in their hands and feet and experience muscle cramps and spasms.
When the disease affects nerves outside the spinal cord, it can cause numbness in certain body parts. Rarely, CMT may cause other symptoms, such as hearing loss or problems with eyesight. These symptoms may be more severe for people with a type of CMT associated with nerve damage.
Families worldwide have an increased tendency to have two or more people with CMT in their family. On the other hand, approximately 70 percent of families with CMT have a member who is a nonsymptomatic carrier.
Types of CMT
CMT Types 1, 4, and X or Demyelinating CMT
These types of CMT directly damage the myelin of the peripheral nerves. The myelin sheath is the insulating layer of the nervous system. When it is damaged, the nerve suffers reduced efficiency and speed in signal transmission. Over time, Demyelinating CMT can also damage nerve axons and eventually lead to total nerve damage.
CMT Type 2 or Axonal CMT
This type of CMT directly damages the nerve axon. While the symptoms are similar to other Types of CMT axonal CMT damages nerves at both the distal and proximal ends of the nerve. An easy way to visualise it is to think of a candle burning at both ends.
Intermediate CMT
Intermediate CMT exhibits characteristics of both demyelinating and axonal CMT. The symptoms of all types of CMT tend to be similar. You can read more about the types of CMT at CMTAUSA.org.
Living With Charcot-Marie-Tooth Disease
CMT has no cure. It is a progressive disorder with symptoms that usually worsen over time. The key to managing CMT is determining the right combination of exercise and physical therapies to slow disease progression and help people manage their symptoms.
There are no pharmaceutical treatments for CMT. There is a list of neurotoxic medications that can cause complications for people with CMT. Drugs like Vincristine and Taxols are defined as high-risk neurotoxic medications by CMTA.
People with CMT may learn to avoid situations that trigger muscle weakness and pain, such as physical activities, heavy lifting, and standing for long periods. This is often a compounding detriment to CMT patients because exercise and physical therapy are the only known treatments for CMT.
Physiotherapy (treating muscles and bones) is the primary treatment for people with CMT. However, some CMT patients need a team of specialists for effective treatment. This team might include a physiotherapist, massage therapist, occupational therapist, speech pathologist, and nutritionist. Physiotherapy can develop the person’s ability to function and cope with symptoms.
Occupational therapy helps develop adaptive equipment, such as special shoes, and can help find the best way to complete everyday tasks.
People with severe CMT have problems speaking, understanding speech, and swallowing food. Speech therapy can help people with CMT learn to talk, speak more clearly and eat food. Speech therapy also helps those with CMT maintain their ability to swallow.
Physiotherapists help patients with gait and balance therapy to help people maintain the ability to walk and prevent falls. People with CMT may be at risk for a fall while moving between different pieces of furniture or standing. Mechanical supports such as walkers or wheelchairs may prevent a fall.
Nutrition is essential in the management of CMT. Tailored diets and healthy eating habits can help reduce symptoms and damage. A dietician and a nutritionist can help manage the symptoms of CMT.
People with advanced CMT often use assistive devices such as walking sticks, canes, and braces when walking. TOrthopedica and walking aids can help reduce the risk of falling.
Orthopedic surgery may be necessary when people with CMT need to improve their posture and/or mobility.
Diagnosis CMT
CMT is diagnosed using a physical exam and specific tests. Electrodiagnostic testing helps diagnose CMT by testing nerves and muscles. The test uses electrodes to stimulate muscles, and nerve conduction studies (NCS) measure how much electricity travels down nerves. Nerve conduction studies can detect nerve damage in the legs. Genetic testing helps determine if someone is a carrier of the genetic mutations related to CMT. You can read more about diagnosing CMT here.
Organization and Support
CMTA, an organization founded in 1983, supports the development of drug therapies, treatments, and a potential cure for CMT. CMTA helps design and achieve wellness standards and manufactures advancements in the diagnosis, treatment, and prevention of CMT.
Links to Charcot-Marie-Tooth Organisations in the USA and UK
I would like to thank CK Harrington for sharing this post on my blog.
If you have, or you suspect you have, Charcot-Marie-Tooth disease, please check out the official organisations wherever you live. In the USA, the organisation can be found here. If you live in the UK, please click here.
I hadn’t realised CMT was the most common peripheral neuropathy condition that’s inherited. It’s interesting that it can be passed down even if neither parent carries the gene, never knew that either.
As is the case with so many conditions, especially perhaps neurological and pain conditions, the lack of cure is so disheartening. To suggest exercise as a “treatment” when that can trigger more symptoms is such a catch-22.
This is a really interesting post and I’ve learned a lot from it, having only learned bits about Charcot-Marie-Tooth online in recent years and not knowing anyone offline who lives with the condition. Fabulous guest post, thank you CK Harrington and Liz for sharing.
Caz xx
What age do people usually get CMT1