Insist on an accurate diagnosis, study the information, and Claudia's article will help you with this.
Why do I need an accurate diagnosis? It's incurable anyway ...
Why do I need additional diagnostics? My diagnosis is Erb-Roth myopathy!
I have already done a bunch of tests, and everything was negative there ...
Are these thoughts familiar to you?
As we have written more than once, Erb-Roth myopathy (or PCMD) is a descriptive diagnosis. Dozens of diseases with different characteristics, prognosis and treatment potential are hidden under this name.
And among them there is one diagnosis that needs to be paid special attention to. So far, this is the only limb-girdle muscular dystrophy for which there is treatment. This PCMD is a late-onset Pompe disease.
It makes no sense to indulge in a description of the typical manifestations of Pompe disease: there are so many people with this disease. Someone has a CPK (creatine kinase) activity at the upper limit of the norm (about 300 U / L), while someone else has an activity under 3000 U / L. In one patient, the disease begins with shortness of breath and sleep apnea, while in another, skeletal muscles suffer more, but breathing is fine. Late-onset Pompe disease can make itself felt at the age of 5 or 55.
If you are diagnosed with limb-girdle muscular dystrophy or Erb-Roth myopathy, you may have late-onset Pompe disease.
Get tested for Pompe disease free of charge... To do this, you need to find a doctor of any specialty who will agree to help you. This doctor needs to call the hotline for diagnosing Pompe's disease - 88001002494 (about the diagnostic program on the MGNC website).
Additional Information: .The analysis is done on dry blood spots. The hotline specialist will tell you how to do this and where to get the necessary materials.
First, an enzyme screening test will be performed to determine if you have excluded Pompe disease. If the result shows that it is not excluded, then the laboratory will conduct a DNA analysis, and only its result will put an end to the question of the presence of Pompe disease.
In Moscow, this can be done, for example, at the Medical Genetic Research Center at ul. Moskvorechye, 1. If you do not live in Moscow and want to exclude Pompe disease, then write Inna Stanovoy- the most active Russian patient with Pompe disease, she will tell you how to proceed.
The drug for the treatment of Pompe disease - Mayozyme - is registered in Russia; almost all Russian patients with Pompe disease receive it free of charge. It is not easy to get it, but it is worth it, because Mayozyme is a pathogenetic therapy, that is, one that acts on the cause of Pompe disease, greatly slowing down or stopping its development, and not just alleviating the symptoms.
Don't waste your time! What if you have Pompe disease?
The article will discuss the progressive muscular dystrophy of Erb-Roth.
Muscle dystrophy is a chronic genetic disease that affects the human muscular system. The muscles affected by the pathological process cease to function normally, gradually become thinner, and in their place, over time, an increase in a layer of fat begins.
There are several of the most common types of muscular dystrophy:
1. Otherwise called pseudohypertrophic or negative congenital dystrophy. Pathology manifests itself in childhood, in the interval between two and five years. At the initial stage of development, it is mainly the muscles of the lower body that are affected. In children with a sedentary lifestyle, the muscles of the legs begin to increase. This is due to the replacement of muscles with a fat layer.
The gradual progression of the pathology leads to damage to the upper body, reaching the arms. With the standard course of the disease, by the age of 12, the child completely loses the ability to move. There is a high probability of death, it is 85-90% before the child reaches the age of twenty.
2. Steinert's disease. This is a congenital pathology, also called myotonic disease. Myotonia refers to the too slow process of muscle relaxation after contraction. Pathology affects adults aged 20-40 years. There are also cases of morbidity in children, but this is an exception to the rule. The disease is not tied to gender characteristics; both women and men are equally susceptible to it. Steinert's pathology is accompanied by a weakening of the facial muscles responsible for facial expressions, as well as limbs. The course of the disease is not fast, the progression can occur over a long period of time.
3. Becker's pathology. This disease is also characterized by long-term development. At the initial stage, it passes latently, and the patient does not experience any difficulties for a long time. The pathology acquires an aggravated form due to injury or diseases of the nervous system, which provoke the progression of the disease.
4. Disease of Landouzy-Dejerine. This pathology has no age range and can affect both children from five years old and adults up to 55 years old. It is mainly the shoulder-scapular-facial region of the body that is affected. A characteristic feature of the pathology is long-term progression, which can allow the patient to remain able to work for several decades. The main signs of the pathological process are damage to the muscles of the face, which leads to impaired speech function. This is due to the inability to completely close the lips. This symptom also applies to the eyelids, which may not close completely. With the further development of the disease, atrophy of the muscles of the face, shoulders, limbs and trunk occurs, which completely immobilizes the person.
5. Distal type of muscle dystrophy. It is a benign form of progressive dystrophy. Quite often, when diagnosing, pathology is confused with Marie-Charcot. To differentiate these pathologies, an electroencephalogram is prescribed, which allows you to clarify the diagnosis. The characteristic signs of the development of pathology are the loss of muscle function in the arms and legs with their further thinning. Against the background of the distal form of dystrophy, paresis of the hands and feet is observed.
6. Emery-Dreyfus myodystrophy. Initially, this type of pathology did not stand out as a separate disease. This was due to the fact that the external manifestations of the disease resemble Duchenne dystrophy. But with a more detailed study of both pathologies, it was found that Emery-Dreyfus myodystrophy is a separate disease with characteristic symptoms.
This form of dystrophy is rare. It strikes patients who are under 30 years old. At an older age, isolated cases were reported. The main difference between this form of dystrophy and others is damage to the heart muscles, which can lead to the death of the patient. All other signs of the disease are more benign than with Duchenne pathology.
Let's move on to the consideration of Erb-Roth muscular dystrophy.
Erba-Roth juvenile myopathy is a genetic disorder that can affect children of perfectly healthy parents. Most often, the pathology begins to progress during adolescence. The vast majority of diagnoses are between the ages of 14 and 18. Erb's pathology is also called lean muscle.
The disease was first mentioned in 1884 by the German neurosurgeon Heinrich Erb, which gave the name to the pathology he described.
Erb-Roth muscular dystrophy is a primary type of disease that arises as an independent pathology caused by a hereditary or genetic factor. That is, the main reason for the development of this type of myopathy is a violation in the genes. Accordingly, if the disease is not caused by a hereditary predisposition, then its cause lies in a gene failure.
The most common prerequisite for the development of Erb-Roth's pathology, muscle-progressive, is intrauterine fetal malformations, caused, among other things, by the unhealthy habits of the expectant mother: smoking, drug and alcohol use. These factors especially affect the early stage of fetal development.
A disruption in genes can also be caused by a woman's work in hazardous industries, permanent living in an unfavorable environment, working with chemicals while carrying a child, etc. These factors can negatively affect chromosomal development. In addition, it is a proven fact that Erb-Roth juvenile muscular dystrophy develops as a consequence of the birth of a child in a woman over 40 years of age.
The main symptom of Erb's pathology is muscle weakness. This symptom is constantly present, while it does not deliver painful sensations to the person. Muscle weakness persists even after prolonged rest. At the initial stage of the course of Erb-Roth disease, there may be a slight improvement in the patient's condition after a night's sleep, but this quickly passes and weakness comes back.
Muscles located on the thighs and in the pelvic girdle are primarily affected. In the future, the disease spreads to the muscles of the trunk and shoulder girdle. Pseudohypertrophy, accompanied by an increase in volume through the growth of adipose tissue and the death of muscle, occurs extremely rarely in Erb-Roth muscular dystrophy.
In the future, the disease is characterized by thinning and subsequent atrophy of the muscles of the limbs and trunk. Muscle mobility decreases, and the tissues themselves become thinner. Almost all muscles available in a person are affected by Erb's disease, but the progress of pathology is slow and it is possible to maintain the ability to walk for up to forty years.
Decreased muscle tone is another characteristic feature of Erb muscular dystrophy. At the same time, the muscles acquire lethargy and flabbiness. As a result of such changes, a person begins to have problems with the area of the spine, its pronounced curvature occurs, and so on. The listed diseases do not respond to treatment and in the future they also begin to progress.
There are quite a few diagnostic methods for identifying Erb-Roth dystrophy, as well as differentiating it from other pathological processes. At the first visit, the specialist will collect the patient's anamnesis, clarify the existing complaints and symptoms. Next, a survey plan is drawn up, which may include the following diagnostic procedures:
Electromyography.
Scraping muscle tissue for research.
Genetic test.
Examination of blood and urine.
Consultation of a therapist, orthopedist, gynecologist and other specialists.
It must be remembered that the later the disease manifests itself, the better for the patient. This is due to the fact that with the manifestation of pathology at an early age, there is a high probability of death.
Therapy for muscle dystrophy is a complex and lengthy process. At the moment, no drugs have been developed that can completely cure the patient. All therapeutic techniques are aimed at improving the patient's condition and restoring some functions, oppressed by pathology.
To stop the progression of dystrophy, the following drugs are used:
In addition, the implantation of fetal stem cells is used to slow down the development of the pathological process.
As a preventive measure, the following therapeutic methods are prescribed:
There are three main principles that should be followed in Erb-Roth's limb-girdle muscular dystrophy - physical activity of adequate intensity, adherence to proper nutrition, and timely receipt of the support of a psychologist.
Often, patients with Erb's pathology have a reluctance to fight the disease, which negatively affects the body as a whole. As a result of physical inactivity, the progression of the pathology is aggravated and accelerated. The muscles must receive the required amount of stress.
Psychological support is a very important stage in patient support. Sometimes the support of relatives and friends is enough, but in some cases, qualified assistance may be required. It is important for a person with such a diagnosis to know that he is not alone and there are people who support him, empathize and are always ready to help.
It is equally important to adhere to a special diet for Erb-Roth myodystrophy. The diet should reduce inflammation, normalize blood glucose levels, and remove toxins from the body while providing the tissues with essential nutrients. The main principles of nutritional therapy for muscular dystrophy are:
With Erba-Roth pathology, treatment should be comprehensive and timely.
It is rather difficult to predict the appearance of muscle dystrophy, as well as to detect it at an early stage. Therefore, the prevention of pathology involves the implementation of two rules:
The prognosis of survival depends on the type of disease, as well as the complications that pathology can lead to. Among the concomitant diseases and conditions of muscular dystrophy, the following stand out:
Erb-Roth progressive muscular dystrophy is a serious and incurable disease that can lead to complete immobility of a person. When planning a child, parents should take a very responsible approach to the question of testing for genetic mutations.
Erb-Roth progressive muscular dystrophy is one of the inherited forms of muscle tissue damage.
The onset of the disease is usually at the age of 10-20 years (debut is possible before 40 years); it takes about 10-15 years to completely immobilize. Transfer of the trait - according to the recessive type, linked to the sex.
Information for doctors. Erb-Roth muscular dystrophy is encrypted according to ICD 10 under the code G71.0. In this case, the diagnosis must indicate the stage of the disease (1 - moderate movement disorders, 2 - difficulties arise when walking, performing light physical work, 3 - paralysis, contractures, etc.). After that, the severity of concomitant manifestations (decreased intelligence, complications from the heart), the rate of progression (fast, medium or slow) are indicated. In case of loss of the ability to move, this fact must be indicated.
There is no single point of rhenium on the occurrence of muscle atrophy. The hereditary theory dominates. The exact biochemical mechanisms of pathogenesis are not fully understood.
Symptoms of the disease are initially nonspecific and include general weakness, weakness of the back muscles. The disease gradually progresses. The patient ceases to hold the back in a normal position, hyperlordosis develops - posterior hyperextension of the lower back.
Gait changes early enough. It becomes like a "duck" - rolling of the legs due to the weakness of the muscles of the thigh and pelvic girdle. The hypotrophy of the muscles of the upper shoulder girdle develops rapidly. General malnutrition also gradually develops, and then muscle atrophy. Sometimes it has pseudohypertrophy of the legs - the replacement of muscle mass with adipose and connective tissue.
Over time, the patient stops performing many active movements. It is significantly difficult to get up, patients have to get on all fours, help with their hands when getting up. The patient's face becomes amimic, the eyelids are incompletely closed, while the lips, on the contrary, are turned anteriorly and often thicken (tapir lips). The facial expressions of such a patient are sometimes called the face of a myopath.
The diagnosis of the disease is usually made fairly accurately. When diagnosing Erb-Roth dystrophy, attention is paid to the age at the onset of the disease, heredity, and the rate of progression of the process. A neurological examination reveals a decrease in reflexes up to loss, a decrease in muscle tone, the presence of joint contractures (due to an uneven process of muscle atrophy).
Contrary to misconceptions, fascicular muscle twitching does not happen. When recording muscle biocurrents, the amplitude, but not the frequency of discharges, decreases. According to ENMG, the shortening of the duration of action potentials, the polyphasic nature of the recording are determined.
Biochemically, changes in the activity of creatine kinase, AST and other enzymes are often detected. Sometimes a change in the composition of blood electrolytes is detected. 
The diagnosis is considered reliable when carrying out a histological examination of the muscles. The shape and size of muscle fibers change, the perception of their staining with histological dyes changes, muscles are reborn, the volume of muscle nuclei increases. Fat, connective tissue is determined between muscle fibers. At the same time, there is no bundle distribution of fibers, characteristic of neurogenic myopathies.
Pathogenetic therapy has not been developed. Treatment is symptomatic and aimed at reducing the rate of progression. Vitamins of group B, vitamin E, ATP, aloe extract intramuscularly, ATP are actively used. The anabolic hormone retabolil has been used some time ago, but increased muscle breakdown has been reported frequently. Also used drugs such as thioctic acid, riboxin, actovegin.
An important role is played by non-drug methods of exposure. Massage for patients with Erb-Roth dystrophy should be carried out at an easy pace, aimed at combating muscle spasm, strengthening muscles. Exercise therapy also plays an important role. Exercise therapy for the disease should be moderate, but regular, ideally daily. All muscle groups are trained.
The constancy of the implementation of preventive measures allows for a long time to maintain the ability of patients to self-care. In my practice, I recall a patient who, at the onset of the disease at the age of 25 to 60, retained the ability to move independently, to self-service, albeit with a restriction.
The prognosis for all muscular dystrophies is usually poor. The disease gradually progresses, covering all muscle groups. Sooner or later, the patient becomes immobilized. Although at the same time the disease itself practically does not lead to the death of the patient. Death is due to bedsores, lung infections, urinary tract infections, etc.
Erb-Roth juvenile myopathy is a genetic disease that can affect children of completely healthy parents. As a rule, the disease begins to manifest itself only in adolescence or adolescence, and almost all diagnoses are made at the age of 14 - 18 years. The second name of this disease is lean muscle.
This pathology was first described in 1884 by the famous German neurosurgeon Wilhelm Heinrich Erb. That is why it is most often called Erb's myopathy.
Erba-Roth myopathy is a primary disease that occurs on its own and is most often hereditary or genetic in nature. This means that the main cause of all problems is a malfunction that occurs in the genes. And if this disease is not hereditary, then the main reason is genetic.
Most often, the main cause of the disease is abnormalities in the pregnancy process in the fetus, as well as the mother's bad habits - smoking, drug addiction, alcohol consumption, especially in the early stages of fetal development.
Also, factors such as work in hazardous industries, living in an ecologically unfavorable area, working with chemicals during pregnancy and much more can be to blame for the “breakdown” in genes. All of these can affect chromosomes. It has also been proven that juvenile myopathy usually occurs when the mother becomes pregnant after 40 years.
The main symptom of Erb-Roth disease is muscle weakness. This weakness is permanent, but the person does not experience pain. Even after a long rest, the weakness does not go away. Although at the very beginning of the disease, slight improvements may be observed after a night's sleep, they quickly disappear, and the weakness returns again.
First of all, the muscles of the pelvic girdle and hips suffer, and over time, the disease spreads to the shoulder girdle and the muscles of the trunk. Moreover, their pseudohypertrophy, that is, an increase in volume due to the replacement of muscle tissue with adipose or connective tissue, is very, very rare.
With the further development of the disease, thinning or even atrophy of the muscles of the trunk and limbs occurs. They become inactive and very thin. With this type of disease, almost all muscles of a person suffer, but since the pathology progresses very slowly, the patient can maintain the ability to walk for up to 40 years, and sometimes longer.
Another symptom of the disease is a decrease in muscle tone. In this case, the muscles become flaccid and their flabbiness appears. Due to the weakness of the muscular corset of the human body, problems begin with the spine. In patients with myopathy, its curvature almost always occurs, scoliosis, lordosis, kyphosis and other pathologies of the spinal column are manifested. At the same time, it is impossible to cure scoliosis or kyphosis in this case, and these defects themselves begin to progress over time. And if at the very beginning the curvature of the spine is barely noticeable, then by the age of 40 they can be seen with the naked eye.
Erb-Roth's juvenile myopathy has its own specific complications, from which most often a person's death occurs. Among them, the most common are:
It is impossible to prevent all these complications, but they can be delayed if all the recommendations given by the doctor are followed.
To date, there is no cure for Erb's juvenile myopathy. Doctors recommend that the patient engage in physiotherapy exercises, visit the pool, be outdoors more often and try to lead an active lifestyle. It is imperative that you undergo massage courses every 2 or 3 months, but all prescribed treatment is best taken in a hospital setting.
As for drugs, the following drugs are usually used in treatment:
These medicines are prescribed only by the attending physician and only in strictly individual dosages.
