Charcot-Marie-Tooth disease (CMT) is a condition that affects the nerves that control muscle movements. There are six main types of CMT, all of which happen because of a genetic mutation you inherited from one or both parents.
CMT is the most common form of inherited peripheral neuropathy (neuropathy means “nerve disease”). Your peripheral nervous system includes any nerves that aren’t part of your spinal cord or brain. Its name comes from Greek and means “around” or “outside the center.”
What are the symptoms of Charcot-Marie-Tooth disease (CMT)?
CMT symptoms usually start in your early teenage years, but can start earlier during childhood or later during middle age. Issues usually appear and develop slowly, getting progressively worse over time.
CMT has two main types of symptoms depending on which types of nerve signals the condition affects. The affected signals are either motor or sensory.
Motor: These signals travel from your brain to your muscles. They tell your muscles to move. Disruption in how motor signals travel means you have trouble moving your muscles, particularly in your limbs.
Sensory: These signals travel from different places in your body to your brain. They tell your brain what’s happening to that part of your body right now. Disruptions in sensory signals affect how you feel sensations in your lower legs, feet and hands.
Motor symptoms
The motor symptoms of CMT affect your muscles. These include:
Loss or decrease in other senses, especially vision and hearing (these are less common and usually only happen with specific subtypes of CMT).
What causes Charcot-Marie-Tooth disease?
Every one of your nerve cells holds some DNA, which they use like an instruction manual, telling them how to do their jobs. A DNA mutation is like a typo in your DNA. Your cells follow the instructions in your DNA very strictly, so mutations cause your cells to work incorrectly, which is how CMT happens.
CMT can involve mutations in one gene or several. So far, researchers have identified several dozen different gene mutations that can cause the different forms of CMT.
Inherited: These DNA mutations pass to you from one or both parents.
Spontaneous: You develop these mutations while you’re still an embryo developing in the uterus. They’re sometimes called “de novo” mutations, which means “new.”
Are there different types of CMT?
Yes, there are seven main types of Charcot-Marie-Tooth disease, but CMT types 1 and 2 are the most common. The other forms are very or extremely rare.
CMT type 1 (CMT1): This type affects myelin, causing slowed signals. It usually appears between ages 10 and 40, but some people can live for decades without developing any symptoms. This is the most common type of CMT, happening about twice as often as CMT2.
CMT2: This type involves axon problems. Nerve signals are weaker and may travel slightly slower, too. It accounts for about one-third of CMT cases.
Other types of CMT include:
CMT3 (also known as Dejerine-Sottas disease).
CMT X-linked (CMTX).
Dominant intermediate CMT (CMTDI).
Recessive intermediate CMT (CMTRI).
How is Charcot-Marie-Tooth disease (CMT) treated, and is there a cure?
There’s no way to cure CMT or treat the condition directly. However, it’s usually possible to treat the symptoms and effects of this condition.
What medications/treatments are used?
Common treatments for CMT include:
Physical therapy and occupational therapy.
Leg braces, walkers, wheelchairs and other kinds of mobility support devices.
Special footwear for changes in foot shape.
Surgery to correct changes in the shape of your hands, feet, hips or back.
Medications for some symptoms, especially chronic pain.
Other treatments for CMT are possible, but these vary depending on the specific subtype of the condition. Your healthcare provider is the best person to tell you the treatments most likely to help you, as they can give you information specific to your case and needs.
Your healthcare provider is also the best person to you more about the potential side effects or complications that can happen with the various treatments, and the recovery time you’ll need (if any) before you start to feel better or return to your usual routine.
How do I take care of myself or manage my symptoms?
Charcot-Marie-Tooth disease isn’t a condition you can self-diagnose because it requires specific medical tests. Some of the symptoms of CMT can also happen with other conditions, some of which are very serious. Because of that, you should always talk to a healthcare provider to learn if you have this condition and what you should do to manage it.
How is Charcot-Marie-Tooth disease (CMT) diagnosed?
It usually takes a combination of methods for a healthcare provider to determine the exact type of CMT you have and determine your case’s severity. The methods include a physical and neurological exam, lab tests, imaging and other diagnostic tests. They’ll also ask questions about your family medical history and your history and life circumstances.
What tests will be done to diagnose this condition?
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