What is Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease, abbreviated as CMT, is an inherited nerve disorder. The condition causes abnormalities of the nerves to your hands, arms, legs, and feet. Both your motor and sensory nerves are affected. Motor nerves carry instructions given by your brain to your muscles to move. Sensory nerves transmit sensations such as pain, heat, and cold back to the brain. Since CMT damages nerves outside of your brain or spinal cord, it is known as a peripheral neuropathy. It is one of the most common types of hereditary nerve disorders.

Who gets it?

CMT occurs in people from all races and ethnicities. It affects male assigned at birth and women assigned female with equal frequency in both.

What are the common types of CMT?

While there are seven original types of Charcot-Marie-Tooth disease, the most common are types 1 and 2. The remaining types are so or extremely uncommon.

CMT type 1 (CMT1): Damage to myelin causes slower signals. Some can live for decades with no symptoms; it usually becomes apparent between ages 10 and 40. With twice as common as CMT2, it is the most common form of CMT.

CMT type 2 (CMT2): Axon problems exist with CMT2. Besides being weaker, the nerve signals can travel a bit slower. It accounts for one-third of all CMT cases.

Other types of CMT comprise:

• CMT3 is another name for Dejerine-Sottas disease.
• X-linked CMT (CMTX).
• Intermediate dominant CMT (CMTDI).
• Recessive intermediate CMT (CMTRI).

Which symptoms of Charcot-Marie-Tooth disease are observed?

Although CMT symptoms might differ from person to person, they typically begin in the legs and feet. Your hands and arms may eventually be affected as well. Teenagers and young adults commonly experience symptoms first.

Common signs and symptoms include:

• Your lower leg and foot muscles are weak.
• Foot abnormalities, such as bent toes (hammer toes) and a high arch
• Walking with trouble lifting your foot (foot drop)
• Muscle wasting in your hands and feet
• Your hands and feet can become numb, tingling, burning, or anesthetic to the sensation of warmth.
• Pain or aching in your feet and hands
• Scoliosis is a curvature of the spine that is abnormal.

What causes Charcot-Marie-Tooth diseas?

Generally, a genetic issue acquired from one or both parents is the cause of CMT. The kind of gene alteration (mutation) you have is determined by the genetic information that you receive from one or both of your parents. The symptoms you experience and the age at which they begin are determined by this gene mutation. CMT has around 30 recognised genetic origins. For many other kinds, the cause is yet unknown.

The axon is vulnerable to certain hereditary disorders. This part of the nerve conducts communication with other nerves. The myelin sheath, covering the axon, is sensitive to other genetic disorders as well. Both the types of conditions can compromise the nerve's ability to send signals and create permanent damage.

What are possible Charcot-Marie-Tooth disease outcomes?

This disease CMT is not fatal. Most of those who suffer from it live to an average age and remain active. Rarely, it may affect your breathing muscles. This can be especially dangerous at night, so you may need a breathing support for night.

Other more common issues are:

• Injuries that result from falls
• Certain medications that exacerbate the illness
• Missed foot injuries or infections due to the absence of pain and sensation of temperature.

How is the diagnosis of Charcot-Marie-Tooth disease made?

After a neurological examination and by asking for family history, it may be possible for a specialist like neurologist can diagnose the disorder of CMT. The following test helps in its diagnosis:

• Check from blood or saliva that whether there exist any genetic diseases or not.
• Nerve conduction tests can also be used in order to calculate the strength and the speed of electric signals passing across your nerves.
• Electromyography will help in establishing the effectiveness with which your muscles as well as the nerves are conversing.
• Biopsy on the nerves; This involves scrutinizing a small section of the tissue under the microscopic. Usually this is done whenever the blood works fails to discover the genetic cause of the problem.

However, your doctor can look for some other causes if there is no family history for this disease.

What is the treatment for Charcot-Marie-Tooth disease?

The CMT cannot be cured at all. Though these treatments could be beneficial:

• You could stretch and make your muscles strengthen with physical therapy. That might help postpone or prevent a disability caused due to weakness and deformities.
• For all of the day-to-day things you want to be able to do, there's occupational therapy, such as wearing Velcro and using aids such as rubber grips to handle items.
• Orthopedic appliances like a thumb spica, hightop boots, and ankle brace
• Pain relief medications, when needed.
• Surgical repair to correct serious abnormalities of the feet, spine, or other joints.

Which Charcot-Marie-Tooth disease consequences are possible?

The disease CMT is not fatal. Most people who have it live into a normal age and remain mobile. Occasionally, it can affect your muscles for breathing. This can be particularly dangerous at night, so you may need a breathing assistant for the night.

• Commoner problems are:
• Injuries from falls
• Certain medications that make the condition worse
• Foot injuries or infections that go unnoticed because of the absence of pain and temperature sensation

How can I take care of myself or manage my symptoms?

Because this is a disease that requires specific medical tests, it is not something you can diagnose on your own. Since some of the symptoms of CMT can also manifest with other diseases-which some are very dangerous you should always consult a healthcare provider to know if you have such a condition and how to manage it.

How can I avoid contracting CMT or prevent it completely?

Charcot-Marie-Tooth disease is an inherited condition that can be either sporadic or familial. There is no known way to prevent this disease or to lower your chances of developing it. Although you cannot prevent CMT from occurring, genetic testing and counselling can help you determine the likelihood that you will pass it on to your offspring. Your healthcare provider or a genetic counsellor can provide you with more information about what this means for you and your options.

What is the outlook for CMT, and what can I expect?

Except for some of the most severe forms, CMT is not a dangerous disease. Most CMT patients will have problems walking or using certain senses, but these problems rarely affect life expectancy. Most people with Charcot-Marie-Tooth disease can still lead active, productive lives and have normal lifespans with the use of special aids and other forms of care, especially foot and ankle aids or shoes.

The most dangerous problem with the most severe types of this illness is weakness in the muscles controlling breathing and swallowing.

The earlier in life that CMT symptoms develop, especially during childhood, the more likely it is that respiratory failure, pneumonia, and other potentially fatal complications will occur.

When should I go to the emergency room?

Most people with CMT will never need emergency care unless they fall because of poor control of muscles in their leg and foot. If you have a fall and there is the potential for a head, neck, or back injury because any damage to your central nervous system can be catastrophic, seek immediate care.

When to seek medical advice?

Routine check-up visits should be scheduled and made by your physician in order to monitor your condition and symptoms, and you can also call or visit them anytime you notice any changes in your symptoms, especially those which may interfere with your regular activities or routine.

Why Tender Palm Super-Speciality Hospital for Charcot-Marie-Tooth disease?

Tender Palm Hospital, owned by doctors, is renowned for attracting the most experienced professional in the country, with the finest neurologist and neurosurgeons specialized in Charcot-Marie-Tooth disease. Tender Palm stands out as the premier Neurology hospital in Lucknow, India. Boasting cutting-edge infrastructure and advanced technology, Tender Palm ensures top-notch medical care for its patients.

To seek an expert consultation for any Neurology condition

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Email at care@tenderpalm.com

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