Charcot-Marie-Tooth disease is an inherited neuromuscular disease. It leads to progressive paralysis of the extremities with subsequent muscle wasting. A causal cure is not known.
What is Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth disease is a hereditary neuromuscular disease. In this type of disease, nerve-related muscle breakdown occurs. The disease is named after its first describers Jean-Martin Charcot, Pierre Marie and Howard Tooth. See lawfaqs for Definitions of Feces.
The technical term for the disease is hereditary sensory motor neuropathy type 1, abbreviated to HMSN 1. The word “hereditary” describes the heritability of the syndrome. Motorically sensitive means that both mobility and sensation are disturbed. Neuropathy is a general term used to describe a disease of the nerves.
Charcot-Marie-Tooth disease is also called neural muscular atrophy. This designation emphasizes the nerve-related muscle breakdown that results from the disease. Charcot-Marie-Tooth syndrome is one of the most common hereditary neurological diseases. The prevalence is 1:2500.
Causes
Charcot-Marie-Tooth disease is an inherited condition. It is usually passed on via autosomal dominant inheritance. There is a mutation on chromosome 17. The peripheral myelin protein gene (PMP) is duplicated. This mutation initially leads to a thickening of the myelin sheath. It is assumed that this results in an undersupply of nutrients.
This results in damage to the nerve cell process or the myelin sheath itself. The myelin sheath surrounds the nerves like a sheath and is responsible for the correct transmission of nerve impulses from the brain to the muscles. If the myelin sheath is damaged, nerve impulses cannot reach the muscle.
It is then no longer possible to implement the commands from the brain in the muscle. The result is weakness and the atrophy of the affected muscles. Since the disease is inherited in an autosomal dominant manner, both sexes are equally affected. There is a 50 percent probability that the offspring of an infected person will also carry the trait.
If both parents are heterozygous, the child has a 75 percent chance of developing the disease. A homozygous parent has a 100 percent chance of passing the disease on.
Symptoms, Ailments & Signs
The first symptoms usually appear in childhood. Occasionally, the disease first manifests itself between the ages of 20 and 30. The first thing you notice is weakness in the hands or feet, which progresses over time. It spreads to the arms and legs.
The muscles of the affected extremities atrophy. As a result, certain parts of the body can become deformed because the normal balance between different muscles is no longer given. For example, a hollow foot can develop. Deformations of fingers and toes also occur. Sensory disturbances can also occur.
Early signs of Charcot-Marie-Tooth disease are changes in gait. The foot drop muscle (musculus tibialis anterior) is often the first to be affected. The result is the stepper walk. The foot can no longer be lifted. Since it hangs down when walking, the whole leg has to be lifted. Cannot control foot landing. The corridor becomes unsafe. Falls can occur. Pain in the affected parts of the body may occur.
Diagnosis & course of disease
In order to make a diagnosis, the first step is to take anamnesis and carry out a thorough physical examination. The occurrence of the disease in the parents gives a crucial clue. The physical examination reveals a reduction in strength in the hands and feet, and possibly also in the arms and legs.
The fist closure may be incomplete. It is no longer possible to stretch the fingers completely. The foot cannot be lifted against resistance. Standing on toes is not possible. Abduction and adduction of the arms and legs can be restricted and weakened. The affected muscles have receded. Reflexes, especially the Achilles tendon reflex, are weakened or cannot be triggered.
When measuring the nerve conduction speed, a slower transmission is noticeable. Depending on the findings, a nerve biopsy may be necessary. If the findings are unclear, the diagnostics can be supplemented by imaging procedures. Imaging shows no evidence of Charcot-Marie-Tooth syndrome. It serves to rule out differential diagnoses.
If the family history is unclear, genetic diagnosis is possible. The disease progresses at different speeds. Some patients remain only slightly restricted throughout their lives. In others, the disease progresses to full expression. This manifests itself in extensive paralysis of the arms and legs.
Complications
Unfortunately, this disease cannot be treated causally, so that the patient experiences extreme limitations and problems in everyday life. Those affected primarily suffer from a weakness that occurs primarily in the hands and feet of the patient. Furthermore, severe paralysis and other sensory disturbances are caused by Charcot-Marie-Tooth disease.
Movement restrictions also occur and the everyday life of those affected is made considerably more difficult and restricted by the disease. In many cases, coordination and concentration disorders also occur. The patients suffer from an unsteady gait and often need help from other people in their everyday life.
Stimuli are also only passed on slowly. Various activities that are carried out with the hands may no longer be possible, resulting in restrictions in the exercise of the profession. Physiotherapy measures can be used to limit and treat some of the symptoms of Charcot-Marie-Tooth disease.
However, full recovery does not occur. It is not uncommon for a psychologist to be taken care of if the illness leads to psychological problems and depression. There are usually no complications and the patient’s life expectancy is not affected by the disease.
When should you go to the doctor?
This condition used to be called Charcot-Marie-Tooth disease. Today it is more commonly referred to as neural muscular dystrophy or hereditary sensory motor neuropathy type I (HMSN I). Since this hereditary disease runs more frequently in some families, the first visits to the doctor are usually recorded during pregnancy. Whether an abortion in the presence of Charcot-Marie-Tooth disease can be justified and is actually considered is a question of counseling.
The symptoms of Charcot-Marie-Tooth Syndrome that occur prompt another visit to the doctor, usually in childhood. In other cases, the consultations of the family doctor or an orthopedist come later in life. The reason is that in some cases the symptoms of Charcot-Marie-Tooth disease can only appear between the ages of twenty and thirty.
The signs that suggest a visit to the doctor are increasing feelings of weakness in the extremities. The genetically determined Charcot-Marie-Tooth disease develops in those affected with symptoms of varying severity. It usually remains relatively stable in its degree of aggravation. The increasing weakening and paralysis of the arms and legs can therefore last for several decades.
The doctors can only alleviate the symptoms of the neuropathies, deformities or muscle shortening, but cannot stop the course of the disease. Sooner or later, aids such as crutches or wheelchairs will have to be made available to those affected by Charcot-Marie-Tooth disease.
Treatment & Therapy
A causal treatment of Charcot-Marie-Tooth disease is not known. Therapy is limited to symptomatic measures. The focus is on maintaining mobility. Early physiotherapeutic measures to train the balancing muscles and prevent falls can improve the quality of life.
The provision of orthopedic technical aids such as walking aids or splints, which, for example, correct dorsiflexor weakness, play an important role. If the clinical picture is fully developed, the use of a wheelchair is unavoidable. In order to enable intensive and comprehensive therapy to maintain mobility and quality of life, rehabilitation stays are recommended.
Any pain can be treated with analgesics. Surgical correction can bring relief in the case of disabling malpositions, especially of the feet. [[Psychotherapy|psychological care] is useful in individual cases.
Outlook & Forecast
Charcot-Marie-Tooth disease cannot be cured. The disease progresses progressively, but life expectancy is not reduced. The protracted course is associated with increasing loss of arms and legs. The disease causes chronic pain and restricted mobility and represents a significant physical and mental burden for those affected. The prognosis depends on the individual symptoms of the patient.
An effective therapy does not yet exist. Treatment is limited to a change in diet and physical therapy. There is no prospect of an improvement in the condition. Instead, the measures mentioned try to delay the progression of the disease. The ongoing therapy represents a significant burden for the patients. The prognosis of hereditary sensory motor neuropathy type I is correspondingly poor.
Patients must be in close contact with a medical team made up of general practitioners, orthopedists and neurologists so that the therapy can be optimally designed. In addition, the prognosis can be improved by the support of family members or friends who act as support in everyday life. The specialist doctor responsible makes the prognosis for Charcot-Marie-Tooth disease, taking into account the constitution of the patient and the stage of the neuropathy.
Prevention
Preventive measures to avoid Charcot-Marie-Tooth disease are not known because the cause of the disease is genetic. An outbreak of the syndrome cannot be prevented in gene carriers. Likewise, there are no known ways to stop the progression of the disease. Timely physiotherapeutic measures can improve the quality of life.
Aftercare
Since Charcot-Marie-Tooth disease cannot be cured, aftercare cannot be clearly differentiated from therapy. The aim is to slow down the progression of the disease. Care with close contact between patient and doctors is recommended. A team of general practitioners, orthopaedists and neurologists optimize the design of the lifelong treatments.
The basis of the follow-up examinations is the clinical examination. At the beginning there is a discussion about the current complaints. The body is then examined in general and in specific areas. In particular, regions affected by neural muscular atrophy are tested for their performance and the loss of circumference of the muscles is documented.
The neurological examination focuses on the function of the nerves and muscles. At the beginning, the neurologist asks about the current symptoms. This is followed by tests to assess gait, posture, balance and movement restrictions. In addition, the reflexes and the sensitivity to pain and touch are tested.
Under certain circumstances, the doctor can also order instrument-based analysis procedures. These include electromyography to measure muscle activity and nerve conduction velocity measurement. Other examination methods are nerve ultrasound, computed tomography or magnetic resonance imaging.
After the examination, the orthopedist regularly checks the fit of orthopedic aids. Depending on the progress of the disease, these are health or therapy shoes, insoles and walking aids. Special physiotherapeutic measures are usually necessary as follow-up treatments after an operation on the feet.
You can do that yourself
Charcot-Marie-Tooth disease is a chronic disease. Those affected must therefore learn to come to terms with the symptoms over a long period of time. The first point of contact for dealing with the disease in everyday life is the physiotherapist. The balancing muscles should be trained as well as possible. In addition, exercises to prevent falls ensure a significant increase in the quality of life. Those affected are often dependent on the help of relatives. They can also consult the physiotherapist to find out how they can better help the person concerned.
Basically, it is important to maintain maximum independence of the patient. Light physical activity such as water aerobics can also help. Depending on the severity of the disease, orthopedic aids such as walking aids can make everyday life noticeably easier for those affected. The choice of footwear is also important. An orthopedist should be consulted.
Those affected should generally try to lead a healthy lifestyle. Since psychological problems often occur as well, it may be advisable to go to a psychologist. It is advisable to adapt the furnishings to the physical limitations of the person concerned. In some cases it is worth moving to a smaller apartment. Those affected and their relatives can also get more information and tips on how to deal with them in everyday life in self-help groups.
