Charcot Marie Tooth Disease: Basic Guide

There are different types of genetic problems but some people are particularly keen on knowing more about Charcot Marie Tooth disease or CMT.

It is actually uncommon and people will notice the difference once they experience a number of signs and symptoms. It is ideal to realize the different effects and causes to determine the best approaches for asymptomatic treatment as well. Charcot Marie Tooth disease will differ in terms of severity and extent. The required interventions will usually depend on these factors.

About Charcot Marie Tooth Disease

Charcot Marie Tooth disease or CMT is described as a genetic nerve abnormality that affects the peripheral nerves of persons. The name is derived from the three physicians who initially discovered the condition.

About 1 in every 3,300 people are afflicted with the condition. Since the peripheral nerves are affected, there are a number of related signs and symptoms that can develop. Peripheral nerves are in charge of feelings, movement and communication between the brain and spinal cord and the other parts of the body.

The signs and symptoms generally begin when the person is still in his childhood or teenage years. There are a number of associated symptoms that will develop early in life, while others will only manifest after the person reaches his twenties.

Charcot Marie Tooth disease has no known cure. It is actually a mild disease so people might experience the symptoms without these having a huge impact on their activities and means of coping with daily life. In fact, thousands of individuals who have the condition continue living normally and can easily cope and excel in work, school and other activities. There are a number of interventions that will alleviate the presenting symptoms should these manifest any time during the person’s lifetime.

The Signs and Symptoms of Charcot Marie Tooth Disease

There are several signs and symptoms to watch out for to determine whether or not you have Charcot Marie Tooth Disease. Since the manifestation is generally mild, individuals will notice that they do not entirely feel weak or lethargic and can adequately meet the demands of their daily lives. Some of the known symptoms will present during the teenage years such as a variety of foot problems.

Some people have hammertoes, claw toe or high arches because of the peripheral nerve problem. The lower extremities will start to display weakness over time. The person might present very thin legs due to muscle wasting in the area. The hands might also feel weak or lose sensation in the arms, hands, ankles, feet and legs. The muscle spasms happen and can be a hindrance to the person’s work and other daily activities.

More Signs and Symptoms of Charcot Marie Tooth Disease

The proprioceptive and sensory nerves in the hands and feet are usually damaged in Charcot Marie Tooth disease, although the pain nerves are completely normal. If the person continues to use the affected extremity, he might develop pain, cramps, numbness and spasms in the area.

The symptoms and development of symptoms will vary between individuals. Some people will have difficulty breathing and others can also have changes in vision, hearing and touch. Some people develop malformation of the hip sockets, scoliosis and atrophy of the vocal cords. Tremors, difficulty eating and swallowing and limited mobility are other manifestations.

Other conditions can actually aggravate Charcot Marie Tooth disease like pregnancy and emotional stress or depression. Individuals are encouraged to move to prevent the further development of symptoms. People can also develop neuropathic pain ranging from mild to severe. When pain presents in CMT, doctors usually categorize it similarly to the pain felt by individuals with peripheral neuropathies and complex regional pain syndrome.

Charcot Marie Tooth Disease: An Inherited Problem

The true known cause of Charcot Marie Tooth disease is not identified but doctors are generally aware that it is genetically passed on and inherited from parents to offspring.

Charcot Marie Tooth disease or CMT, together with other conditions like peroneal muscular atrophy or PMA and hereditary motor and sensory neuropathy or HMSN are inherited problems of the peripheral nervous system which presents continuous loss of muscle and sensation in different parts of the body. The disease has no known cure. About 125,000 in the United States and close to 25,000 in the United Kingdom have the disease.

The Causes of Charcot Marie Tooth Disease

CMT is generally triggered by changes that lead to defects in the neuronal proteins. Since nerve signals are controlled by a myelin sheath and axon, many changes in the CMT will also cause changes in the myelin sheath or the axon. One of the most common triggers based on the studies of experts involve the PMP22 gene.

The duplication of a major area in the chromosome and certain mutations will also affect the mitochondrial protein. Since cells hold different sets of genes in the mitochondria and nucleus, hindrances and changes in the natural course of things will also lead to a variety of problems. Mutated genes can lead the mitochondria to develop major clusters that cannot easily move down towards the synapses. The synapses will then experience a variety of problems.

For nerves to effectively function and to prevent the occurrence of conditions like Charcot Marie Tooth disease, it’s important for the nerves to work together to guarantee proper results. Schwann cells, neurons and fibroblasts will transmit signals for proper functioning and survival. The mutated genes can change or disrupt signals thereby affecting the normal function of the myelin sheath and axon. Neurological effects and symptoms then develop afterwards.

Diagnosing Charcot Marie Tooth Disease

Diagnosis of Charcot Marie Tooth disease can be done just by assessing the symptoms. There are also a number of other approaches that will help doctors confirm the presence of the condition such as electromyography, DNA testing and biopsy of the nerve.

Not every genetic marker for CMT can be properly identified. Foot deformities and problems in the lower legs are usually indicative of the problem. The patient’s family history will matter much in the diagnosis of Charcot Marie Tooth disease. The patient needs to complete all these details for the doctor to create sound interventions.