Charcot-Marie-Tooth Disease: Causes, Symptoms, Risk Factors, Diagnosis, Treatment and Complications

Charcot-Marie-Tooth disease is a genetic group of diseases that cause damage to nerves. The most damaged peripheral nerves are found in the arms and legs. Charcot-Marie-Tooth disease is also known as inherited motor and sensory neuropathy.

Marie Charcot Smaller and weaker muscles are caused by dental disease. Muscle spasms, numbness, and trouble walking are other possible symptoms. Foot abnormalities are also frequent, including high arches and hammertoes. The hands and arms may also gradually experience the symptoms, which usually start in the legs and feet.

Signs of Charcot-Marie-Tooth disease can be affected at any age, however, it usually manifests itself in adolescence or the early stages of adulthood.

Causes Of Charcot-Marie-Tooth Disease

 Charcot-Marie-Tooth disease is a genetically inherited disease. It occurs when the nerves in your hands, arms, legs, and feet are affected by genetic alterations.

On rare occasions, nerve damage may result from these mutations. Additional mutations cause damage to the myelin sheath, the covering that shields the neuron. Both cause the communication between your brain and limbs to become weaker.

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Symptoms Of Charcot-Marie-Tooth Disease

Among the symptoms and indicators of Charcot-Marie-Tooth disease could be:

• Your feet, ankles, and legs are all weak.
• Decrease in muscular mass in the limbs
• Elevated plantar arches
• Often referred to as hammertoes, toe curls
• Reduced capacity for sprinting
• You're having trouble lifting your foot above your ankle.
• Trip over obstacles frequently or exhibit an abnormally high gait
• You feel less or nothing at all in your feet and legs.

Following Charcot-Marie-Oral disease can cause symptoms and signs that affect the hands, arms, and even legs. Symptom intensity can differ significantly from person to person, even within the same family.

Risk Factors Of Charcot-Marie-Tooth Disease

Marie Charcot You are more likely to have dental disease if any members of your immediate family currently have it, as it is hereditary.

The symptoms of diabetes and other neuropathies can also be the cause of Charcot-Marie-Tooth illness. Additionally, several other disorders may cause the symptoms of Charcot-Marie-Tooth disease to worsen. Vincristine, paclitaxel, and other chemotherapy drugs are among the drugs that exacerbate symptoms. 

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Diagnosis Of Charcot-Marie-Tooth Disease

During the physical assessment, your doctor may check for:

• Signs of weakening muscles in your arms, legs, feet, and hands
• Your lower limbs have less muscular mass, making them resemble an upside-down champagne bottle.
• Reduced response time and loss of feeling in your hands and feet
• Foot deformities, such as high arches or hammertoes
• Other orthopedic problems, like minor scoliosis or hip dysplasia

Your doctor may also recommend the following tests to assess the extent of your nerve damage and its potential causes.

• Research on nerve conduction: These tests quantify the speed and intensity of electrical signals that flow through your nerves. Skin electrodes apply tiny electric shocks to the nerve to activate it. A nerve disorder like Charcot-Marie-Tooth disease may be indicated by weak or delayed reactions.
• ECG stands for electrocardiogram: Via your skin, a thin needle electrode is inserted into the muscle. Both calm and slightly tense muscle contractions can be used to measure electrical activity. Your doctor may be able to determine the distribution of the disease by doing examinations on multiple muscles.
• Nerve biopsy: A little skin incision is used to remove a tiny piece of your peripheral nerve from your calf. By studying the nerve in a lab, Charcot-Marie-Tooth disease can be identified from other nerve disorders.
• Genetic analysis: These tests determine which genetic anomalies are most common in Charcot-Marie-Tooth illness and are carried out using a blood sample. Learn more about family planning alternatives and how genetic testing can help individuals with the disease. It also can rule out several neuropathies. Due to recent improvements, genetic testing is now more affordable and thorough. Before testing, your doctor may advise you to consult a genetic counselor to assist you in thoroughly considering the advantages and disadvantages of the test.

Treatment Of Charcot-Marie-Tooth Disease

Treatment for Charcot-Marie-Tooth is unknown. On the other hand, the condition typically progresses slowly and has no bearing on the expected lifespan.

There are a few treatments that can assist you in managing Charcot-Marie-Tooth disease.

Medication

Chart-Marie-Periodontal disease can sometimes cause pain due to nerve damage or spasms in the muscles. If you find it difficult to manage your discomfort, prescription medications could help.

Therapy

• Physical therapy: Physical therapy can help you stretch and strengthen your muscles, which can help you avoid muscle loss and tension. Stretching exercises and low-impact workouts supervised by a licensed physical therapist and approved by your doctor are common components of a course. Early initiation and sustained maintenance of physical treatment can help prevent disability.
• Occupational health and safety: It may be challenging to write or hold items with the fingers, like buttons, if one has hand or arm weakness. Occupational therapy may be beneficial when utilizing assistive technology, such as rubber grips on doorknobs or clothing with snaps in place of buttons.
• Tools used in orthopedics: For many people with Charcot-Marie-Tooth illness, orthopedic devices are essential to maintaining daily mobility and preventing injury. Ankle and leg braces or splints can provide stabilizing assistance when walking and stair climbing.

If you want additional ankle support, consider using high-top trainers or boots. You could improve your gait by wearing orthotics or shoe inserts. Consider obtaining thumb splints if you struggle to grasp and hold objects with your weak hands.

Surgery 

If your foot abnormalities are significant, corrective foot surgery may assist improve your walking and lessen your suffering. Surgery cannot restore weakness or loss of feeling.

Potential strategies for upcoming treatments

Researchers are investigating a wide range of potential therapies that may be utilized in the future to treat Charcot-Marie-Tooth disease. Examples of proposed treatments that could help prevent the illness from being passed down to future generations include medication, gene therapy, and in vitro procedures.

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Complications Of Charcot-Marie-Tooth Disease

Every individual has a different dental disease severity. Usually, the most severe problems are with walking and foot abnormalities. It is feasible for you to injure body regions where feeling is diminished and for your muscles to weaken.

Because the muscles in your feet might not always receive the signal from your brain to contract, you face the danger of tripping and falling. Furthermore, your feet may not communicate pain to your brain, so if you massage a blister on your toe, for example, it may get infected without you realizing it.

You might also experience difficulties breathing, swallowing, or speaking if you have Charcot-Marie-Tooth sickness. This is so because muscles regulate these functions.

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