Charcot-Marie-Tooth disease is a type of neuropathy in which both the motor function of the nerve fibers and the sensory function are affected. Cause: demyelination of the nerves that transmit electrical impulses to muscles or receive them from sensory receptors. This is a hereditary disease with an autosomal dominant mode of transmission. Code G60.0 according to the International Classification of Diseases.
This pathology is characterized by atrophy of the muscles of the upper and lower extremities and the appearance of deformities of the feet, legs, and thighs. Sensitivity also suffers. Charcot's disease occurs more often in men. It can appear after neuroinfections or injuries. The disease is incurable, but treatment alleviates the condition of patients.
Symptoms of Charcot-Marie-Tooth disease
Symptoms of Charcot's disease are as follows:
- Weakness of the lower and upper limbs. Moreover, there is symmetry between the right and left sides.
- Atrophy of the leg muscles: their shape becomes bottle-shaped. The feet look like clawed paws, as do the hands.
- Tendon reflexes are absent or severely weakened.
- Violation of the acts of swallowing and chewing food, articulation (speech suffers).
- Loss of sensation like socks or gloves.
- Possible impairment of hearing, vision, and breathing.
- Muscle soreness after exercise.
Remarkable appearance patient with Charcot's disease (photo): the feet and hands of patients with Charcot-Marie's disease are curved and deformed. The instep of the feet is high, which is explained by insufficient innervation of the flexor and extensor muscles of the fingers. The toes themselves are hammer-shaped.
Due to atrophy calf muscles on the background normal development and the tone of the muscles of the thighs, the legs of patients look like inverted bottles. Walking independently is difficult; patients usually walk on their toes. Because of this, the load on the joints, in particular the hip, increases. The acetabulum to which the head is attached femur, may wear out.
Atrophy and loss of sensation in the upper extremities develops later – after 10 years from the onset of the disease. At first, the pathology affects only the legs, in particular the legs. For Charcot-Marie disease, symptoms may also include curvature of the spine such as lordosis or kyphosis, kyphoscoliosis. This is explained by a violation of the innervation of the muscles of the back and spine, as well as by the peculiarities of gait, which causes an increased load on the spine.
In patients with this pathology, damage to all nerves is possible, including cranial nerves responsible for speech, chewing, swallowing, and vision. With demyelination cranial nerves Eating may be difficult due to impaired innervation of the muscles of the soft palate. With prolonged physical activity, pain occurs in the affected limbs.
Causes of pathology
Charcot-Marie-Tooth disease is caused by a defect in the PMP22 gene, responsible for the synthesis of neuronal proteins, located on chromosome 17p22. The impetus for the development of pathology is immunological changes, neuroinfections (herpes virus). With Charcot's disease, the myelin sheath and nerve cells are affected, through which impulses are transmitted from one cell to another. As a result, the nerve fibers become exposed and cease to transmit signals normally. This manifests itself in a decrease and then loss of skin sensitivity and limb sensation when sensory nerves are damaged.
There are two main types of Charcot-Marie-Tooth disease:
- Demyelinating neuropathy.
In the presence of axonal pathology, demyelination of the nerve also develops after some time, i.e. exposing it, depriving it of a protective shell that provides insulation of the electrical impulse. If neuropathy is caused by demyelination, then the function of axons in transmitting nerve signals is also impaired.
Diagnosis of Charcot's disease
To establish Charcot-Marie-Tooth disease, you need to contact a neurologist. Examinations that need to be completed:
- Electromyography to determine muscle tone and nerve signal conduction speed.
- Genetic analysis.
- Biopsy is the removal of material from peripheral nerves to confirm axonal pathology or demyelination.
Conduct differential diagnosis with the following diseases:
- paraproteinemic polyneuropathy;
- distal Gowers-Welander myopathy;
- polyneuropathy due to intoxication ( renal failure, heavy metal poisoning);
- chronic demyelinating polyneuropathy;
- myasthenia gravis.
Treatment
When a diagnosis of Charcot-Marie-Tooth disease is made, treatment is carried out with the help of neurotropic vitamins, energy products to maintain metabolism in muscle tissue. Drugs to improve the conduction of nerve impulses and anabolic drugs are also prescribed. Patients require orthotics for mobility. This wheelchairs, walkers. Massage, reflexology, physiotherapy, electromyostimulation.
In the treatment of Charcot's disease, energy drugs such as Riboxin are used. Use minerals: potassium, calcium, magnesium to improve impulse transmission. Vitamins that have a beneficial effect on neuropathy: vitamin B1, niacin, cyanocobalamin, folic acid. There are complex drugs: Neuromultivit, Milgamma.
To improve the transmission of nerve impulses and increase muscle tone, drugs are used that block the destruction of acetylcholine in nerve endings. These are the so-called acetylcholinesterase inhibitors: Prozerin (Neostigmine), Galantamine, Kalimin. If swallowing is impaired, drugs are administered intramuscularly.
To improve tissue trophism and blood microcirculation, Pentoxifylline is prescribed. Cerebrolysin optimizes metabolism in nerve cells. To treat atrophic processes in muscles, anabolic steroid hormones (Retabolil, Methandrostenolol) are used.
Charcot's disease is incurable, but contacting a neurologist will improve your quality of life. Drugs to treat this type of neuropathy can combat muscular dystrophy.
Etiology and incidence of Charcot-Marie-Tooth disease. Charcot-Marie-Tooth disease is a genetically heterogeneous group of hereditary neuropathies characterized by chronic motor and sensory polyneuropathy. This disease is divided according to types of inheritance, neurological changes and clinical symptoms.
A-priory, 1st type- autosomal dominant demyelinating neuropathy; its prevalence is approximately 15 per 100,000 and it is also genetically heterogeneous. Charcot-Marie-Tooth disease type 1A, which represents 70-80% of all cases of pathology, is caused by an increased dose of the PMP22 protein due to duplication of the PMP22 gene on chromosome 17. New duplications account for 20-33% of cases of Charcot-Marie-Tooth disease type 1A; more than 90% of these mutations occur during male meiosis.
Pathogenesis of Charcot-Marie-Tooth disease
PMP22 protein- intramembrane glycoprotein. In the peripheral nervous system, PMP22 is found only in compact myelin. The function of PMP22 is not fully explained, but there is evidence that it plays a key role in myelin compaction.
Dominant loss-of-function mutations in the PMP22 gene and increasing doses of PMP22 cause demyelinating peripheral polyneuropathy. An increase in the dose of the PMP22 protein occurs due to a tandem duplication of the p11.2 region on chromosome 17. This 1.5 megabase region is limited by repeated DNA sequences that are almost 98% identical. Disruption of the pairing of flanking repeat elements during meiosis can lead to unequal crossing over and the formation of one chromatid with a 1.5 megabase duplication region and another with a reciprocal deletion. [Reciprocal deletion causes hereditary neuropathy with pressure palsies].
An individual who has inherited a chromatid with duplication, will have three copies of the normal PMP22 gene and thus overexpress PMP22 protein.
Overexpression PMP22 protein or expression of its dominant negative forms results in failure to form and maintain compact myelin. Nerve biopsies from severely affected children show diffuse myelin scarcity, and nerve biopsies from patients with less severe disease show areas of demyelination and myelin sheath hypertrophy. The mechanism of formation of these changes during overexpression of the PMP22 protein remains unclear.
Weakness and muscle atrophy with Charcot-Marie-Tooth disease type 1 occur as a result of their denervation caused by axonal degeneration. Long-term observations of patients show an age-dependent decrease in nerve fiber density, consistent with the development of disease symptoms. In addition, studies in mouse models indicate that myelin is essential for the functioning of the axonal cytoskeleton. How demyelination alters the axonal cytoskeleton and influences axonal degeneration is not fully explained.
Phenotype and development of Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease Type 1A has almost complete penetrance, although the severity, age of onset, and course of the disease vary markedly within and between families. Most patients do not seek medical care, either without noticing symptoms, or because these symptoms are easily tolerated. On the other hand, many have a severe illness that is detected in early childhood.
Symptoms illnesses usually appear in the first two decades of life; Onset after age 30 is rare. Symptoms usually begin with subtle, slowly progressive weakness and atrophy of the distal leg muscles and mild sensory impairment. Weakness in the feet leads to gait abnormalities, foot popping, and ultimately changes in foot shape (pes cavus milky toes) and loss of balance; but this rarely results in loss of the ability to walk.
Weakness of important muscles The hand usually appears late in the disease and, in severe cases, causes a clenched fist abnormality of the hand due to an imbalance between the muscle strength of the flexors and extensors of the hand. Other associated symptoms- decreased or absent reflexes, ataxia and tremor of the upper extremities, scoliosis and palpable thickened superficial nerves. Sometimes the phrenic and autonomic nerves are also affected.
With electrophysiological research The pathognomonic sign of Charcot-Marie-Tooth disease type 1A is a uniform decrease in conduction velocity in all nerves and nerve segments as a result of demyelination. A marked decrease in conduction velocity is usually present by 2–5 years of age, although clinically obvious symptoms may not be apparent for many years.
Features of phenotypic manifestations of Charcot-Marie-Tooth disease:
Age of onset: from childhood to mature age
Progressive distal weakness
Distal muscle wasting
Hyporeflexia
Treatment of Charcot-Marie-Tooth disease
Although type 1 may be suspected based on clinical, electrophysiological, and pathological features, the definitive diagnosis often depends on the detection of a mutation. Inflammatory peripheral neuropathies are often difficult to distinguish from Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with pressure palsies, and previously, before the advent of molecular diagnostics, many patients with inherited neuropathy were treated with immunosuppressants, ultimately experiencing increased mortality without improvement in neuropathy.
Treatment symptomatic, since radical therapy has not been developed to date. Parallel to the development of the disease, therapy usually consists of three stages: strengthening and stretching exercises to support walking and other motor functions, use orthopedic shoes and special splints and orthopedic surgery. If further deterioration occurs, mobility aids such as crutches, a walker or, in rare severe cases, may be needed. wheelchair. All patients should be advised to avoid exposure to neurotoxic drugs and chemicals.
Risks of inheriting Charcot-Marie-Tooth disease
Since duplication and majority point mutations in the PMP22 gene Autosomal dominant and fully penetrant, each child of an affected parent has a 50% chance of developing Charcot-Marie-Tooth disease type 1A. However, the variable expressivity of duplications and mutations in the PMP22 gene makes it impossible to predict the severity of the disease.
Example of Charcot-Marie-Tooth disease. Within a few recent years An 18-year-old woman presented with progressive weakness, decreased endurance, and decreased ability to run and walk. She also complained about frequent seizures legs, worsening with cooling, and difficulties when stepping over objects or climbing stairs. She did not remember previous illnesses or complaints reminiscent of inflammatory process, such as muscle pain, fever, or night sweats.
None of the other members families there were no similar problems or neuromuscular diseases. During examination, the patient was found to have thin atrophic legs, more in distal sections, slight weakness in flexion and extension of the foot, absent foot reflexes, decreased knee reflexes, a “flapping” gait, and thickening of the peroneal nerves. She has difficulty walking on her toes and is unable to walk in heels. The rest of the examination results were normal. As part of the evaluation, the neurologist requested several tests, including nerve conduction velocity.
The speed of nerve conduction turned out to be abnormal; average was 25 m/s (normally >43 m/s). Results of a subsequent nerve biopsy showed segmental demyelination, myelin sheath hypertrophy (excess Schwann cells around nerve fibers), and no signs of inflammation. The neurologist concluded that these findings strongly resembled demyelinating neuropathy, such as Charcot-Marie-Tooth disease type 1, also known as hereditary motosensory neuropathy type 1. Having explained what is most common reason Charcot-Marie-Tooth disease - duplication in the peripheral myelin protein 22 (PMP22) gene; a neurologist suggested testing for this duplication. The test confirmed that the patient had a duplication of the PMP22 allele and Charcot-Marie-Tooth disease type 1A.
Amyotrophy neural Charcot-Marie (peroneal muscle atrophy) has a slow progression pattern.
The disease is based on atrophy of muscle fibers in the distal parts of the legs.
Belongs to the category of diseases that have genetic predisposition. It is inherited mostly as an autosomal dominant trait and less frequently as an autosomal recessive trait.
Fiber degeneration occurs in peripheral nerves and their roots. There are cases of hypertrophic changes in interstitial tissue. The mutation in the muscles has a neurological basis. Individual muscle groups atrophy.
The later form of the disease is characterized by hyaline degeneration and complete breakdown of muscle fibers.
Often the disease is accompanied by significant changes in spinal cord . The area of the anterior horns is affected, as well as the lumbar and cervical region, which disrupts nerve conduction in the spinal cord.
This condition is typical for.
Symptoms of the disease
In a greater percentage of cases, Charcot Marie disease affects men.
The manifestation of the disease, as a rule, refers to the age of 15 - 30 years. Very rarely the disease develops in the preschool period.
The onset of the disease is characterized by symptoms such as muscle weakness, fast fatiguability in the legs. Patients cannot stand in one place and, to reduce muscle tension, begin to stomp on one point.
There are cases when the onset of the disease is accompanied by sharp pains in muscles, various unpleasant sensations, a crawling feeling in the legs.
Other symptoms:
- the shape of the toes is bent, similar to a hammer;
- decreased sensitivity in the legs and feet;
- muscle cramps in lower limbs and forearm;
- a person cannot move his legs horizontally;
- manifestations such as sprained ankles and fractures in the feet are common;
- loss of sensitivity: inability to distinguish between vibration, cold and hot touch;
- writing disorder;
- violation fine motor skills: The patient cannot fasten a button.
Primary degeneration affects the muscles of the legs and feet in a symmetrical manner. The muscles in the tibia also atrophy. During such processes, the shape of the leg sharply narrows in the distal sections.
The legs become like the shape of an inverted bottle. They are also called “stork legs”. Deformation of the feet occurs. Paresis in the feet significantly changes the nature of gait.
The patient cannot step on his heels and raises his legs high when walking. This gait is called steppage, which is translated from English as “work horse.”
A few years after the onset of foot degeneration, the disease is detected in the distal parts of the arms, as well as in the small muscles of the hands.
The patient's hands become like the crooked hands of a monkey. Muscle tone is weakened. Tendon reflexes have 
uneven appearance.
Noted pathological symptom Babinsky. The level of Achilles reflexes drops noticeably. Only knee reflexes and reflexes of the triceps and biceps brachii muscles.
Trophic disorders such as hyperhidrosis and hyperemia of the hands and feet are noted. The patient's intelligence, as a rule, does not suffer.
The proximal parts of the limbs are not subject to degenerative changes. The atrophic process does not extend to the muscles of the trunk, cervical spine and head.
Total atrophy of the lower leg muscles leads to dangling foot syndrome.
Interestingly, despite severe muscle degeneration, patients can retain the ability to work for some time.
Diagnosis of the disease
The diagnosis is based on a study of the genetics of the patient and the characteristics of the manifestation of the disease. The doctor should carefully ask about the symptoms and history of the disease and examine the patient.
Nerve and muscle reflexes must be checked. For these purposes, EMG is used to record nerve conduction parameters.
A DNA test is ordered and general analysis blood. If necessary, a nerve fiber biopsy is performed.
Rare and very dangerous, it has a poor prognosis and is practically untreatable. Details in our article.
Friedreich's hereditary ataxia has a similar disease. similar symptoms and approach to treatment. What about the disease?
Treatment approach
Treatment is carried out in accordance with the existing symptoms of neural amyotrophy of Charcot Marie Tooth. The activities are comprehensive and lifelong.
It should be noted that more effective ways There are no medical treatments known. Only methods are used that help alleviate the patient’s condition and improve their quality of life.
It is important to optimize the patient's functional coordination and mobility. Therapeutic measures should be aimed at protecting weakened muscles from injury and decreased sensitivity.
The patient's relatives should help him in every possible way in the fight against this disease. After all, treatment is carried out not only in medical institutions, but also at home.
All prescribed procedures must be followed strictly and carried out daily. Otherwise, there will be no results from the treatment.
Treatment of amyotrophy includes a number of techniques:
Additionally use:
- For amyotrophic lesions a certain diet is compiled. It is recommended to eat foods with high protein content; patients adhere to a potassium diet and should consume more vitamins.
- If the course of the disease is regressive, in parallel with the above remedies mud, radon, pine, sulfide and hydrogen sulfide baths are prescribed. An electrophoresis procedure is used to stimulate peripheral parts nerves.
- In case of impaired mobility in joints and skeletal deformation correction by an orthopedic surgeon is indicated.
For relax emotional state the patient requires psychotherapeutic conversations.
The basis of treatment is the use of agents that help improve trophic indicators and the transmission of impulses along nerve fibers.
Drug treatment
For this purpose, the use of medications such as:
Complications of the disease
With a progressive course, amyotrophy Shcharko-Marie Tuta can lead the patient to complete disability.
The result may be a complete loss of the ability to walk. Manifestations such as severe loss of touch as well as deafness may occur.
Disease prevention
Prevention is seeking advice from a geneticist. Vaccines against polio and tick-borne encephalitis should be administered in a timely manner.
Prevention of the development of early foot deformities is to wear comfortable orthopedic shoes.
Patients should visit a specialist in foot diseases - a podiatrist, who can promptly prevent changes in soft tissue trophism and, if necessary, prescribe appropriate drug therapy.
Difficulties in walking can be corrected by wearing special braces(ankle-foot orthoses). They can control leg and ankle flexion with back side, eliminate instability ankle joint and improve body balance.
Such a device allows the patient to move without the help of others and prevents unwanted falls and injuries. Foot braces are used for foot drop syndrome.
A system of measures to provide assistance to patients and their families “a world without Charcot Marie Tooth disease” has been widely developed abroad.
There are various specialized organizations, societies and foundations. Constantly held research papers to find new treatments for this disease.
Unfortunately, on the territory Russian Federation There are no such institutions, but research in the field of studying and searching for optimal treatment methods is being carried out quite actively.
Such programs operate in research institutes in Bashkortostan, Voronezh, Krasnoyarsk, Novokuznetsk, Samara, Saratov and Tomsk.
(SHMT) is genetic disease nerves, which leads to muscle weakness, especially in the arms and legs. The name of the disease comes from the doctors who first described it: Jean Charcot, Pierre Marie, and Howard Henry Tooth.
The disease affects peripheral nerves located outside the central nervous system, which control muscles and allow a person to feel touch. Symptoms get worse gradually, but most people with the disease have a normal life expectancy.
(c) Wikipedia Signs and symptoms of CMT
The most common symptom of Charcot-Marie-Tooth disease is atrophy of the limbs, especially the calf muscles. The legs tend to become weak. On early stages, people may not know they have the disease because the symptoms are mild.
Symptoms in a child with CMT
- The child is clumsy and often falls;
- They have an unusual gait due to difficulty lifting their legs;
- Other symptoms often appear during puberty, but they can appear at any age.
Symptoms of CMT in adults
- Weakness in the muscles of the legs and ankles;
- Curvature of toes;
- Difficulty lifting the foot due to weak ankle muscles;
- Numbness in the arms and legs;
- Change in the shape of the lower leg, with the leg becoming very thin below the knee, while the thighs retain normal muscle volume and shape (stork leg);
- Over time, the arms become weaker and patients find it difficult to perform daily tasks;
- Pain in the muscles and joints appears, and it is difficult for a person to walk. Neuropathic pain occurs due to damaged nerves;
- In severe cases, the patient may need a wheelchair, while others may use special shoes or other orthopedic devices.
Risk factors and causes of CMT
ShMT is hereditary disease, so people who have close relatives with the disease have more high risk development of the disease.
The disease affects peripheral nerves. Peripheral nerves consists of two main parts: the axon, which is the inner part of the nerve, and the myelin sheath, which is the protective layer around the axon. CMT can affect the axon and myelin sheath.
At ShMT 1genes that cause the breakdown of the myelin sheath are mutated. Eventually, the axon is damaged and the patient's muscles no longer receive clear messages from the brain. This leads to muscle weakness and loss of sensation or numbness.
At CMT 2the mutating gene directly affects axons. The signals are not transmitted strongly enough to activate the muscles and senses, so patients have weak muscles, poor sensation or numbness.
ShMT 3 or Dejerine-Sottas disease, a rare type of disease. Damage to the myelin sheath leads to severe muscle weakness and soreness. Symptoms may be noticeable in children.
ShMT 4is rare disease, which affects the myelin sheath. Symptoms usually begin in childhood and patients often require a wheelchair.
ShMT Xcaused by a mutation on the X chromosome. It is more common in men. A woman with CMT X will have very mild symptoms.
How to diagnose CMT?
The doctor will ask about your family history and look for signs of muscle weakness - decreased muscle tone, flat feet or high arches (cavus).
Nerve conduction studies measure the strength and speed of electrical signals that travel through nerves (electromyography). Electrodes are placed on the skin and deliver mild electric shocks that stimulate the nerves. A delayed or weak response suggests a neurological disorder, and possibly CMT.
With electromyography (EMG), a thin needle is inserted into the muscle. When the patient relaxes or contracts the muscles, it is measured electrical activity. Testing various muscles will show which one is suffering.
Genetic testing is done using a blood sample that can show whether a patient has gene mutations.
Treatment of Charcot-Marie-Tooth disease
(c) The New York Times / Michael Nagle There is no cure for CMT yet, but it is possible to relieve symptoms and delay the onset of disability.
NSAIDs (nonsteroidal anti-inflammatory drugs), such as ibuprofen, reduce joint and muscle pain and pain caused by damaged nerves.
Tricyclic antidepressants (TCAs) are prescribed if NSAIDs are not effective. TCAs are commonly used to treat depression, but they may reduce pain symptoms neuropathy. However, they do have side effects.
Physical therapy can help strengthen and stretch your muscles. Exercise will help maintain muscle strength.
Occupational therapy can help patients who have problems with finger movement and find it difficult to carry out daily activities.
Orthopedic devices can prevent injury. High-top shoes or special boots provide additional ankle support, and special shoes or shoe insoles can improve gait.
Surgery to remove the Achilles tendon can sometimes relieve pain and make walking easier. Surgery can correct flat feet and relieve joint pain.
Possible complications of CMT
Breathing may be difficult if the disease affects the nerves that control the diaphragm. The patient may need bronchodilators medicines or artificial ventilation lungs. Overweight or obesity may make breathing difficult.
Depression may be a result mental stress, anxiety and frustration of living with any progressive disease. Cognitive behavioral therapy helps patients cope better everyday life and, if necessary, with depression.
Although CMT cannot be cured, taking some steps can help prevent further problems. These include good foot care, as there is increased risk injuries and infections, giving up coffee, alcohol and smoking.
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One cannot ignore the main hereditary cause of this pathology - Charcot Marie Tooth disease. Its other name is hereditary motor sensory neuropathy; two forms are distinguished: the first with a predominance of muscle weakness, the second leading to impaired sensitivity. Is the most common hereditary neurological disease(frequency 1:2500). In this disease, the innervation of such peripheral muscles such as: peroneus brevis, tibialis anterior, intrinsic muscles of the foot and hand.
Hereditary motor sensory neuropathy owes its ornate name to three doctors: Jean-Martin Charcot (1825-1893), Pierre Marie (1853-1940) Howard Henry Tooth (1856-1925). Their surnames formed the basis for the name of the disease Charcot - Marie - Tooth.
Charcot Marie Tooth disease is most often inherited in an autosomal dominant manner. This means that 50% of children inherit the disease from an affected parent. There is also an autosomal recessive type of inheritance and X-linked inheritance.
Charcot Marie Tooth disease is associated with mutations leading to the synthesis of defective neuronal proteins; most mutations affect the structure of myelin, the most important protein acting as an “insulating winding” of nerves; due to a violation of its structure, the speed of signal transmission drops significantly. In 60-70% of cases of the disease, the mutation occurs on chromosome 17, leading to a doubling of the region with the P22 gene. There are also rarer forms of the disease when a mutation occurs in the mitochondrial gene MFN2, which leads to disruption of axonal transport and synaptic transmission.
Thus, two main forms of the disease can be distinguished: in the first case, there is simply a dysfunction of the nerves, in the second, their degeneration.
Orthopedic manifestations of Charcot Marie Tooth disease - cavus foot, hammertoes, dysplasia hip joints, scoliosis.
Classification of Charcot's disease by Marie Tooth.
Type I A CMT disease is a demyelinating disease accompanied by a significant decrease in the speed of nerve impulses. An autosomal dominant disease, manifestations appear in the first or second decade of life, most often leading to the formation of a cavus foot.
Type II CMT - gradual death of axons due to their degeneration. It has a milder course, begins in the second or third decade of life, and often leads to flat feet.
Symptoms of Charcot Marie Tooth's disease.
Symptoms of Charcot Marie Tooth disease, depending on the form of the disease, begin in the second or third decade of life. At the onset of the disease, it often manifests itself as weakness of the lower leg muscles and foot drop. Subsequently, a characteristic picture of a hollow foot is formed, hammertoe deformity, inversion of the calcaneus, muscle atrophy in the lower part of the lower leg often leads to the fact that the lower leg looks like an “upside-down bottle of champagne.” Many patients also note weakness of the hands and forearms.
Decreased sensitivity to touch in the feet, ankles and lower legs gradually progresses, accompanied by painful muscle spasms, the intensity of which varies significantly depending on the activity of the process. Exercise stress often provokes numbness, spasms and pain in the feet and hands. In more severe cases, the disease can affect the jaw muscles, vocal cords, paravertebral muscles, accompanied by pronunciation problems and scoliosis. Stress, pregnancy, prolonged immobilization lead to exacerbation of the disease.
To summarize the most common symptoms: pain on the outer edge of the foot, decreased tactile sensitivity, lameness, frequent injuries ankle joint, problems with walking up stairs.
Diagnosis of Charcot's disease Marie Tooth.
During a physical examination, the first thing to look for is foot deformity.
Initially, the displacement of the first ray to the plantar side is determined. The second element appears as a cavus deformity due to the fact that the peroneus longus muscle (normal) is stronger than the affected tibialis anterior muscle. The third element of the deformity is varus deformity, which appears due to the fact that the tibialis posterior muscle is stronger than the affected peroneus brevis muscle.
Second important point is the definition of atrophy of the extensor digitorum brevis and extensor digitorum brevis muscles thumb foot, atrophy of the lower leg, especially in its lower part, weakness of dorsiflexion and eversion of the foot, decreased reflexes of the lower limb.
A Coleman block test is also performed to determine the elasticity of the hindfoot.
When placing a plank under the outer edge of the foot in case of elastic deformation of the hindquarters, it is corrected to a neutral position; in case of rigid deformation, the position of the heel bone remains unchanged.
When examining the upper extremities, atrophy of the intrinsic muscles of the hand is noted.
Instrumental examination.
EMG - decreased conduction velocity nervous excitement in the peroneal, ulnar, median nerves.
Genetic examination - PCR to determine mutations in the PMP 22 gene, chromosome analysis to detect duplication of the 17th chromosome arm in the most common autosomal dominant form of the disease.
With the principles of conservative and surgical treatment You can read about foot deformities in Charcot Marie Tooth disease in the article dedicated to
