Charcot-Marie-Tooth: symptoms, causes, treatmentThe Charcot-Marie-Tooth disease (also known as hereditary motor-sensory neuropathy type 2) is a rare genetic disorder of the peripheral nervous system. It causes nerve impulses from the brain to no longer reach the corresponding muscles. The consequence is a degradation of the musculature.
Synonyms and terms:
First symptoms can already appear in childhood. Muscle weakness starts in the hands and feet and then spreads to the body. The ability to move of the affected person decreases more and more. In addition, sensory disturbances, pain and muscle spasms can occur. A cure for the disease is still not possible. In Germany, about 30.000 people affected by the disease.
Symptoms of Charcot-Marie-Tooth disease
The feet are frequently affected by Charcot-Marie-Tooth disease. Increasing gait disturbance is often an early symptom. Clinically, the lower leg muscles show typical changes. The legs become thinner due to the shrinkage of the musculature. Atrophy (muscle atrophy) of the muscles near the foot on the lower leg leads to a relatively typical picture. So-called. stork legs, as the muscles near the knee are normally developed. Muscle atrophy in the lower legs often occurs symmetrically on both sides.
The typical pattern of involvement of the lower leg and foot muscles is as follows:
1. the small sog. intrinsic (localized in the foot) foot muscles 2. the calf-leg muscles, i.e. the peroneal muscle group 3. the anterior tibial muscle (Musculus tibialis anterior) 4. the toe extensor (Musculus extensor digitorum longus) 5. in the further course the remaining lower leg muscles
In addition to the intrinsic foot muscles, the sensitive and autonomic nerves are increasingly affected, especially in the early stages. Further expression of hip dysplasia, scoliosis and an affection of the hands are often combined. In the hands, the affection of the small muscles of the hand is typical.
Clinical picture before surgery: The shape of the foot has changed significantly in the course of Charcot-Marie-Tooth disease. © Joint Clinic
A gait analysis can show the progression of symptoms
In addition to the clinical appearance of the lower legs and calves, the focus is also on faulty strain resulting from increasing weakening and paralysis. This results in compensatory muscle activities very early on.
As long as the toe extensors are sufficiently powerful, these muscles can take over some of the foot elevation. The orthopedist can systematically assess this support during gait analysis. Objectively check the change in the course. This is very important, especially before planned operations, but also for monitoring the course and objective examination of the progression of the disease.
Malposition of the calcaneus
In the context of Charcot-Marie-Tooth disease, stance insecurity also occurs. This is dependent on the malpositioning of the heel. The heel is tilted inward (varus position) due to the normal function of the calf and the internal flexor tendons and posterior tibial tendon when the external and anterior tendons are weakened. This tilt leads increasingly to twisting of the foot. The stance base area becomes smaller due to the load on the outer edge. This reduces the mobility in the upper ankle joint. The cause is the altered traction conditions, but also a bony stop (impingement) at the anterior ankle joint due to the altered foot shape. The changes can be explained by the damage to the motor nerves. In addition, however, the sensory. autonomic nerves involved. The sensory nerve components mediate sensation perception such as pain, temperature, prere or touch, vibration and position sensation.
Also the vegetative nerve parts are disturbed. All nerves that regulate blood flow and vascular control are affected, as are the nerve components that supply the sebaceous glands of the skin. Since all of them can be affected to varying degrees in Charcot-Marie-Tooth disease, damage and limitations can occur in all of these areas. We often observe symptoms such as prere sores or skin damage.
Which foot deformity is classic in Charcot-Marie-Tooth disease?
Due to the typical sequence of muscle weakening, a hollow foot (pes excavatus) develops most frequently. Particularly typical is the so-called. inner or medial bunions. In the further course, it also affects the ankle joint and the hind foot due to its special load in the forefoot.
Clinical picture of a bunion in an adolescent with a CMT disease: Here, the left foot, which has not been operated on, was mirrored in comparison to the corrected right foot. The changed traction on the left foot shows the supination of the arch of the foot. The supination i.e. twisting of the foot inwards in front of the ankle joint. The hindfoot axis does not show any strong tilting clinically. © Joint Clinic
In the early phase of the disease, the peroneus brevis muscle on the outside of the foot, i.e. the short fibula muscle, is affected. This muscle is an antagonist (opponent) of the posterior tibial muscle. Thus, the weakness of the externally attaching muscle results in a malposition with an increased pull of the foot inward. This positional adjustment takes place in the joint in front of the upper ankle joint, i.e. in the Chopart joint. Seen from above, the foot adjusts itself more inward (supination position).
With this weakening, there is also an imbalance between the two fibula muscles M. peroneus longus and brevis. Therefore, the weakening of the externally attached short fibula muscle (M. peroneus brevis) the strength of the long fibula muscle (M. peroneus longus), which passes from outside under the foot below, inside at the metatarsus. This imbalance results in increased lowering of the first metatarsal bone. The outer edge of the foot is no longer guided due to the lack of muscle guidance. Loss of control (steep position of the 1. ray). beam).
Foot prere measurement of a patient with paralysis-induced hollow foot in Charcot-Marie-Tooth. © Joint Clinic
The change in muscle activity can also be observed in pedobarometry (foot prere measurement). This measurement on a treadmill equipped with sensitive, calibrated prere sensors enables the determination of preres during walking on the treadmill. The red areas are zones of high prere. The results presented here show the mean plots of both feet of a patient with Charcot-Marie-Tooth disease with paralysis-related hollow foot formation.
On the right, the paralysis is present at an earlier stage. Here, we still find a significant lowering of the 1. frog with excess prere under the 1. Inner metatarsal bones.
In addition, a foot elevation is present due to the residual function of the remaining muscles. This can be recognized by the strain on the heel (red area). On the left, the damage is already much more pronounced. The foot is already tilted outward during walking due to the muscle imbalance. On the heel there is no load during touchdown and rollover. Here the forefoot is already overloaded on the outer side. Despite a clear hollow foot, there is also a load on the middle of the foot. This is possible by tilting the foot outward. Pedobarometry also permits a comparative measurement in the course here.
In addition, the function of the important foot lever (anterior tibial muscle/M. tibialis anterior) early after. Therefore, the big toe elevator predominates. The long fibula muscle.
Due to the failure of the small foot muscles and the extensor tendons of the toes, claw toes very often form as a sign of the muscle imbalance between the short toe flexors and extensors in relation to the long toe flexors and extensors.
These imbalances in different muscle parts and at different places of the foot lead via the changed movement to typical malpositions, which are then present depending on the stage of the disease.
Examination of the hanging leg: These toe malpositions are caused by the permanent strain on the muscles. © Joint Clinic
Course of the CMT disease
In CMT disease, very individual progressions occur, which must be assessed before a therapy can be started. The course of the disease depends on the following factors:
– onset of the disease – speed of formation – extent of paralysis – load on the foot – extent of compensatory mechanisms
A series of examinations are useful to assess the course of the disease. The more muscles fail in a short period of time and the shorter the period of strong imbalances, the smaller the malalignments are in principle. The better the compensatory mechanisms function, the less the disease affects the neighboring regions, i.e. the hindfoot and ankle joint. The change in position of the leg axis also depends on this.
A malposition of the foot but also a malposition of the knee can cause each other due to the strong load. Therefore, a consideration of malpositions of the foot is only meaningful if the entire leg is included in the assessment. © Joint Clinic
Knowledge about the origin of the deformities and about the progression of the disease are essential for any consultation. For each therapy decision we collect a large number of parameters. These are intended to achieve the best possible assessment of the progression. This allows for a very individualized treatment regimen. The assessment is carried out on an interdisciplinary basis between neurologists, orthopedists, foot surgeons, and in some cases also knee surgeons and physiotherapists.
X-ray of a hollow bunion with the axes of the bones drawn in. It is easy to see that there is no bone in contact with the ground in the middle of the arch. So there is a hollow arch. This position is represented by the upper axis line. A kink in this axis line results from a plantar flexion of the 1. Frog (steep position). The heel bone is also steep to the ground. The toes do not show any malposition when standing. © Joint Clinic
Malpositioning of the hindfoot
Charcot-Marie-Tooth disease affects not only the foot and toes, but also the hindfoot. The effects on the hindfoot due to the changed muscular traction can be compensated well in part. In some cases, the resulting malpositioning – often in combination with injuries to the ligaments – causes extensive damage to the ankle joint. The malposition then also affects the entire leg. This is how x-leg axons can develop. The malpositioning of the foot often also results in an altered rotation in the lower leg. These effects can be very different for each individual. They depend very much on the individual pattern of affection. The principles are similar in all patients with CMT disorders, but never the same.
X-ray images of a patient with a medial bunion with malalignment of the hindfoot (top right). Visible is a varus tilt of the calcaneus with effect on the position of the ankle joint in the ankle joint fork between tibia and fibula (2. Image from left). Here, the talus bone is tilted outward. Malalignment of the heel causes arthritis to develop on the inner side in the upper ankle joint. No joint space is visible anymore. © Joint Clinic
What is the cause of Charcot-Marie-Tooth disease??
Charcot-Marie-Tooth is a hereditary disease in which a gene mutation of chromosome 17 causes nerve damage. The impulse-transmitting axons with their insulating myelin sheath are affected. In the course of the disease there is a disturbance of the transmission of excitation. The impulses no longer reach the muscles completely, causing them to atrophy (shrink). The more the disease progresses, the less impulses are transmitted. Although this process begins in childhood, the symptoms do not manifest themselves in many sufferers until the third decade of life.
The myelin sheath serves as an insulating layer of the nerve cell. Action potentials are only built up between the individual myelin layers, at the so-called Ranvier lacing ring. The action potentials jump from lacing ring to lacing ring, which shortens the transmission speed considerably. © Joint Clinic
Diagnosis of CMT disease
Principle of a tendon transfer on the foot and lower leg. © Joint Clinic
There are a number of possibilities to change the traction conditions of the foot by a tendon transfer, depending on the residual function of the muscles. The direction of pull of the tendons depends on the bony position of the foot. The still existing movement axes of the foot from. Depending on the position of the tendon insertions before and after such an operation, there are various changes that can be assessed on the basis of a precise preoperative analysis. The tendon transfers are classified according to their used muscle. The muscles to be strengthened are referred to. A transfer of the M. flexor digitorum longus on peroneus brevis is a transfer of one of the flexor muscles of the small toes from the inside to the weakened short fibula muscle to the outside. DIeffect improves weakened control of the outer edge of the foot.
Soft tie balancing by Steindler release of the plantar fascia
Another frequently necessary intervention – especially in young patients with an increasing hollow foot – is the so-called Steindler release. In this procedure, the physician cuts the attachments of the plantar fascia on the inner side of the foot in order to obtain a lower straightening effect of the arch of the foot. Regardless of the cause, this is often a very important measure in the correction of a hollow foot.
Furthermore, an early balancing of the posterior tibial muscle (M. tibialis posterior) and the short fibula muscles (M. peroneus brevis) is useful in order to delay or avoid a bony operation. The later the soft tie balancing is performed, the more often a correction of the deformity must be performed at the same time. The primary goal in the case of a hollow foot is to prevent the deformity from increasing. Thus the regular control. Assessment of the situation necessary in the case of a hollow foot. A particularly important assessment for the specialist for each form of high arch is the examination of the cause. In the case of Charcot-Marie-Tooth disease, this can be secured. Nevertheless, there are other unclear conditions that cause a hollow foot.
In case of early visible changes, a sole soft tie intervention often achieves a very good improvement and can prevent the progression of the deformity. Forefoot surgery alone with soft tie correction is also an early helpful measure. The more the often advancing deformity of the hindfoot plays a role, the more complex corrections have to be completed.
Operations for severe foot deformities
Severe deformities or foot deformities that have developed over years require further corrective surgery, which can be performed on the calcaneus or also on the tarsus. Depending on the extent of the deformity, this can only be achieved by stiffening the foot and correcting the deformity.
Surgery without stiffening by displacement, twisting or shortening at the calcaneus is sometimes useful to change the position and the incorrect loading of the foot.
Correcting the position at the highest point of the deformity at the tarsus can also be a sensible measure. This operation, in which a foot wedge is removed, is very efficient, especially in cases of malalignment of the small toes. In the process, a foot wedge is taken from the tarsal area. The bones fixed again afterwards. This correction is, among many other possibilities, a very effective measure, if an earlier treatment does not prevent the deformity. Depending on the location of the deformity, the position of the wedge removal can also be at the 1. metatarsal bone in the context of a so-called. Tubby osteotomy or at the calcaneus in the context of a calcaneus osteotomy or Dwyer osteotomy may be useful. The choice of the intervention can sometimes only be made during the operation itself.
Therapeutic principle for malalignment of the longitudinal arch of the foot
The removal of a foot wedge at the highest point of the hollow foot offers a good possibility of correction. Above you can see the planning of the operation on the lateral standing foot. © Joint Clinic Correction of the deformity from above can also be performed in different ways: 1. Additive, i.e. inserting, surgery by fitting a bone chip into the osteotomy (bone cutting). 2. Subtractive, i.e. removing conversion by taking out a bone wedge. Sometimes the methods are combined, so that the chip taken from the outside is used on the inside. © Joint Clinic
With regard to arthrosis of the ankle joint, which often results from many years of malpositioning of the hollow foot, further operations may be useful. Straightening of misalignments is always in the foreground with these methods. Crooked axes, when symptomatic arthrosis is present, are always a reason for correction. These often allow a causal (causal) therapy. A temporary improvement of the ankle joint arthrosis. Unfortunately, once arthrosis has developed, it can no longer be cured. But they often progress more slowly after such measures.
Such operations are particularly useful in the case of incipient arthrosis with deformity, so that stiffening (arthrodesis) or ankle joint prosthesis is not necessary in the course of time. Unfortunately, especially in the foot and ankle joint, this opportunity is often carelessly missed, because often no other therapy option is known except stiffening.
Possibilities in case of already existing arthrosis due to a misalignment
The treatment of the internal arthrosis of the ankle joint in the case of a hollow foot was carried out by straightening and thus horizontal position of the talus (ankle bone). Depending on the cause of the deformity, a variety of complementary position-correcting measures may be considered. Ligament replacement surgery, tendon relocation or even just bone removal is often useful as well. Cartilage surgery is often supplemented. It makes sense to carry out these therapies as early as possible, even in the case of Charcot-Marie-Tooth disease. © Joint Clinic
Correction when joint preservation is no longer possible
After many years without a positional correction, arthrosis and malalignment often occur. This can no longer be treated in a joint-preserving manner. Such a severe deformity in the context of Charcot-Marie-Tooth disease severely limits the quality of life. Such deformities require good planning, vascular evaluation and neurological opinion prior to surgery. © Joint Clinic The final stage of Charcot-Marie-Tooth disease and any severe deformity can only be treated by straightening and stiffening. Further position correction provides the patient with mobility without an orthopedic shoe. A straight tread of the foot can greatly improve the quality of life in this final stage, especially in very young patients. A prosthesis fitting with simultaneous paralysis is often not possible. Primary is the severe deformity in the ankle joint. To treat the deformity of the hindfoot.
The X-ray image shows an ankle joint, top view from the front and bottom view from the side. On the left you can see the deformity before the correction of the position. The red line shows the position of the ankle bone. Because Charcot-Marie-Tooth disease has not been treated for years, the surgery turns out to be more complicated than it would have been if it had been performed earlier. In the right picture, an intramedullary nail was inserted to hold the position until the bone heals as part of an arthrodesis (fusion) procedure. The fibula was removed (see top right). © Joint Clinic
At the 2. In this case, the malpositioning of the tarsus was corrected by a wedge resection from the tarsus. The resulting straight position of the foot when standing. Walking is particularly important here. Straightening and thus overall better loading of the remaining joint in the foot are important objectives.
The same patient also had a massive deformity in the rest of her foot. Correction of the ankle and hindfoot alone allows a satisfactory appearance, but otherwise does not improve the overall situation. Therefore, the twisted and fan-shaped metatarsals (top right) had to be straightened. For this purpose, a transverse wedge was removed from the tarsus. The forefoot corrected against the hindfoot. The fixation was done with the clamps or stables visible in the picture. These compress the bones at the correction site for the necessary 8 weeks. The correction was performed in two operations, since the soft ties of the foot would have been damaged in a sole operation with a very high risk. Since patients with CMT suffer from impaired sensitivity, the risks of soft tie damage are also increased. © Joint Clinic
Physiotherapy and exercises for Charcot-Marie-Tooth
Recommendations::
– neurophysiological physiotherapy concepts (u. a. PNF = proprioceptive neuromuscular facilitation) – water gymnastics – moderate strength training – aerobic endurance training/cardiovascular training – fall prevention – balance training – stretching and joint mobilization
Avoid:
– Physical inactivity – supramaximal/stress/training
The training should be done in consultation with the doctor and therapist to avoid harmful load peaks. © Joint Clinic.de
Physical therapy is one of the most important symptomatic treatments for Charcot-Marie-Tooth disease. Neurophysiological therapy concepts are used to awaken the potential of muscles and to initiate movements. Exercises should train the balancing muscles as well as trunk and muscles close to the trunk. Exercises to prevent falls help those affected to cope more easily and safely with their daily lives. Stretching and mobilization techniques help prevent contractures (stiffening) of the joints.
The type of training that produces the best results for patients with degenerative neuromuscular diseases has not yet been conclusively clarified. However, some recommendations can be derived:
Patients with neuromuscular diseases are usually less physically active. Condition and strength decrease continuously. This disease-related inactivity can be countered by aerobic endurance training (z. B. walking, walking and cycling) and moderate strength training counteract. Supramaximal training, i.e. training that exceeds the maximum strength of the muscle, should be avoided by patients with CMT. Otherwise, there may be overuse in the muscles, resulting in damage and a decrease in strength.
In order to avoid excessive demands, the training should therefore be based on the respective disease dynamics. An individual exercise plan in consultation with physician and therapist is essential.
Frequently asked questions about Charcot-Marie-Tooth to Dr. Thomas Schneider from the Joint Clinic
Does lecithin help with Charcot-Marie-Tooth?
Lecithin is an important component of our diet. It is found, for example, in soybeans or eggs. As a component of our nerve cells, lecithin plays a significant role in the transmission of excitation stimuli. Experiments with rodents have shown that the administration of lecithin improves the insulating function of the myelin sheaths, which is lost in progressive CMT disease. Future studies should investigate whether lecithin as a dietary supplement can also lead to improved conduction of nerve impulses in people with Charcot-Marie-Tooth.
Does heredity play a role in CMT disease??
Yes, Charcot-Marie-Tooth is an inherited disorder that is passed from one or both parents to the child. The cause is an anomaly of chromosome 17. The parents do not necessarily have to have the disease themselves, but can be carriers of the disease trait. It is also possible that a spontaneous mutation of chromosome 17 occurs. Then neither parent is a carrier. The child still gets sick.
If Charcot-Marie-Tooth is an autoimmune disease?
No, Charcot-Marie-Tooth is not an autoimmune disease in which the immune system attacks the body's own tie. CMT is a neurogenetic disease and is often caused by. A genetic mutation of chromosome 17 is responsible for damage to the insulating layer of nerve cells.
What experience do the doctors at the Joint Clinic have with CMT disease?? The Joint Clinic in Freiburg is one of the first certified centers for foot-. Ankle joint surgery (ZFS) in Baden-Wurttemberg. As such, we are subject to constant quality control. Our experts have a high level of surgical experience in foot and hock operations. Regular inspections of our specialist clinic ensure the quality of our diagnostic and therapeutic measures. In addition, the Joint Clinic is the first certified endoprosthetics center (EPZ) in Baden-Wurttemberg. We treat annually about 20.000 patients. Of these, 200 receive an endoprosthesis. Our specialists for foot and ankle surgery, Dr. Thomas Schneider and Dr. Martin Rinio, achieve demonstrably successful surgical results without quality problems.
Is Charcot-Marie-Tooth curable?
For Charcot-Marie-Tooth disease there is no causal therapy at the moment. It is therefore not curable. Only the symptoms can be treated.
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