In the United States, an estimated 150,000 people are affected by Charcot-Marie-Tooth disease. Also referred to as CMT, this condition is characterized by peripheral nerve damage. It can also affect the nerves that work to control your muscles. There are different types of CMT, and it is possible to have more than one type of the disorder.
1- Symptoms Usually Start in Adolescence
While symptoms can develop in young children and older adults, most people with CMT start to notice symptoms during adolescence. The following symptoms may occur:
- Lower Limb Weakness
- High Foot Arches
- Reduced Ability to Run
- Abnormal Gait
- Reduced Sensation in Your Lower Limbs
- Loss of Lower Limb Muscle Bulk
- Curled Toes
- Footdrop
- Falling or Tripping Often
2- CMT is Mostly an Inherited Disorder
In most cases, this disorder occurs after you inherit the mutated gene from at least one parent. While you can inherit the mutated gene from both parents, you only need to inherit it from one to develop the disorder. However, there are some cases where the gene mutation just happens and the person has no family history of the disorder. Over 40 genes are associated with this disorder. However, over 50 percent of cases are caused by PMP22 gene duplication on chromosome 17.
3-There are Four Main Tests to Diagnose CMT
If the doctor suspects Charcot-Marie-Tooth disease, there are four diagnostic tests that they might recommend. The first is nerve conduction studies to see if your nerve’s electrical signals are transmitting normally. Electromyography looks at your muscle’s electrical activity. You will tighten and relax your muscle to see how everything is working.
Your doctor might also recommend a nerve biopsy. They will use a peripheral nerve in your calf muscle. Through analysis, they can determine if you have CMT or another similar disorder.
Genetic testing can also help with diagnosing this disorder. Your doctor will draw blood and evaluate it to see if it is consistent with CMT. It can also rule out other types of neuropathies.
CMT is Incurable, but Treatable
CMT usually progresses slowly over time. There are some medicines that can help with the muscle cramping and pain that can occur due to the nerve damage. Your doctor will also likely recommend one or more therapies.
Physical therapy can help to reduce muscle loss and tightening. Occupational therapy can help you with hands and arm weakness so that you can still complete daily tasks, such as writing or buttoning your shirt. Orthopedic devices might also be helpful. Your doctor might recommend ankle or leg braces to make it easier and safer to walk.
The Prognosis for CMT
There is no cure, but the treatments can help most people with Charcot-Marie-Tooth to live a normal life expectancy. There are rare cases of patients developing respiratory muscle weakness and this could shorten lifespan, but overall, with treatment, this is not common.
Anyone who suspects Charcot-Marie-Tooth disease should consult with their doctor. While there is no cure, there are treatments that can allow people to live a normal life expectancy. Research is ongoing and scientists are continuing to explore new treatment options.
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