I have muscular dystrophy Landouzi - Dezherina A girl living with a rare form of muscular dystrophy - about accepting the diagnosis and attitude towards people with disabilities in society

Landouzi-Dejerine myopathy is a hereditary neuromuscular disease in which degenerative-dystrophic changes in the muscles of the face, shoulders and shoulder blades are noted. Another name is facial-scapular-brachial myodystrophy (FSMD). The type of inheritance is autosomal dominant. Women are susceptible to the disease 3 times more often than men.

A little history

In 1884, French doctors Landouzy and Dejerine described a disease that begins in childhood with damage to the facial muscles. After 2 years, they described the shoulder - a scapular shape. In 1950, for the first time this disease was called face - scapulohumeral dystrophy. Throughout the 20th century and to this day, continuous research has been conducted into the nature of the disease and methods of treatment. In 2007, the World Foundation for FSHD Research was created.

In 2008, the incidence statistics were 4 people per 100,000 population. According to a study in the Netherlands in 2014, the statistics are 12:100,000. Currently, FSHD is the third most common muscular dystrophy after Duchenne and myotonic dystrophy. Depending on geography, the frequency varies from 1:400,000 to 1:20,000 population.

Features of the course of Landouzy-Dejerine muscular dystrophy

The neuromuscular disease is characterized by progressive damage to the facial muscles, shoulders and shoulder blades. Muscles in other parts of the body are also affected, but much more slowly and less severely. A feature of the flow is the asymmetry of the destructive process. Often the muscles of the shoulder girdle are the first to atrophy, gradually spreading to the facial muscles, leading to facial expression, weakness and the inability to raise the arms.

Unlike other muscular dystrophies, with Landouzy-Dejerine myopathy, sports and physical activity do not slow down the pathological process, but rather accelerate the destruction of muscle tissue. In the future, cardiac dysfunction is observed, vision loss and hearing loss may occur.

This myopathy was first described by the French doctors Landouzy and Dejerine in 1884.

It is known that the diagnosis is genetically determined, with an autosomal dominant mode of inheritance. Most patients have gene mutations, but some patients do not have genetic disorders.

Landouzy-Dejerine glenohumeral-facial myopathy is a rare pathology, with an incidence rate of 1-1.5 per 100,000 population. Due to hereditary predisposition, it is often detected in blood relatives. The first symptoms appear in childhood. The peak incidence and severity of clinical manifestations are adolescence, pregnancy and menopause.

The pathology continues to be studied, but the cause of the defect and the development of atrophy is not known. There is currently no pathogenetic treatment, which is why the disease continues to be classified as a serious disease. Despite the fact that patients remain able to work for a long time and can care for themselves, in most cases the diagnosis leads to their disability.

Psychotherapy

The onset of clinical manifestations and subsequent deterioration are usually provoked by mental stress. Moreover, severe muscle disease is, in itself, a serious mental stress. Against the background of the disease, secondary depression often develops with apathy and reluctance to take care of one’s health. And this leads to progression of the disease and possible death of the patient.

If necessary, we provide our patients with psychotherapeutic treatment. Our patients become more resistant to mental irritants, become more active, have a positive attitude towards treatment, and this immediately affects muscle function.

In addition, we teach patients special psychotechniques for working with their own muscles.

If there are signs of depression, it is possible to prescribe modern antidepressants (selective serotonin reuptake inhibitors, such as Cipralex, Fluoxetine, etc.). These antidepressants do not reduce, but increase the patient’s activity and mood, and do not cause muscle weakness.

Reasons for development

The primary causes of the biochemical defects leading to myopathy are unknown. But, analyzing statistical data, scientists identify several factors in the development of myopathy:

• hereditary factor - often members of the same family are affected;
• genetic predisposition - many have a defect in chromosome 4;
• viral diseases in the mother during pregnancy;
• pathology of pregnancy in the mother.

In some patients, myopathy occurs against the background of normal health for no apparent reason. In this case, the diagnosis is classified as idiopathic myopathy.

Due to the lack of information about the initial processes of pathology development, doctors are practically unable to stop them and restore lost body functions.

Neuropsychological development of children with neuromuscular pathology

The muscles contain a huge number of receptors that transmit information about muscle function to the brain. The flow of impulses from these receptors enters the brain and participates in the formation of higher cortical functions, such as writing, reading, counting, and logic. With myopathy and amyotrophy, these receptors do not provide proper impulses, which reduces the rate of development of the child’s intelligence.

Therefore, our clinic pays great attention to exercises for the development of intelligence. Regular classes over a long period of time are required, so a child psychologist teaches the parents of our little patients how to independently conduct developmental activities.

Symptoms

The first signs of the disease appear at 10-20 years of age, when excessive muscle weakness, fatigue and slow development of the muscles of the shoulder girdle are noted. Patients find it difficult to raise their arms and perform physical exercises. Due to atrophy of muscle tissue, their shoulder blades protrude excessively, acquiring a wing-shaped shape, the gap between them is widened, and the chest is flattened. Muscular weakness contributes to the development of scoliosis.

Dystrophy of the muscles of the shoulder, chest and trapezius muscles leads to the development of the symptom of a drooping shoulder. A common complication in this case is dislocation of the shoulder joint. Patients experience difficulties in everyday life and at home. It is difficult for them to comb their hair, wash their face, and brush their teeth. Due to previously habitual loads, they get tired too quickly, to the point of being unable to perform them.

As myopathy progresses, it involves the facial muscles in the process. The face becomes amicable. Due to damage to the orbital muscles of the mouth and eyes, it is difficult or impossible to close your eyes and purse your lips. This leads to frequent eye inflammation and corneal injury.

A common complaint is speech impairment - unintelligible, slow. This significantly impairs the quality of life, especially social life and work activity. Difficulties also arise during meals. Patients have difficulty eating solid food, chewing it and swallowing it.

Characteristic signs of the disease are: inverted lips “tapir lips”, a transverse smile “Gioconda’s face”, a polished forehead.

In the future, progressive muscular dystrophy in other parts of the body is possible. When the tissues of the buttocks and thighs are affected, muscle weakness contributes to excessive fatigue from walking, which can lead to lameness. Damage to the calf muscles is accompanied by the symptom of foot drop, severe weakness when walking and the inability to run.

Depending on which symptoms are more pronounced and what is the order of their occurrence, the following forms of Landouzy-Dejerine myopathy are distinguished:

• facioscapulohumeral;
• facioscapular-humeral-peroneal;
• facioscapulohumeral-gluteofemoral;
• facioscapulohumeral-gluteal-femoral-peroneal;
• facioscapulohumeral-peroneal-gluteofemoral;
• infantile form.

The most severe is the infantile form. It occurs in children under 5 years of age. It is characterized by symmetrical paresis of the facial muscles, damage to the shoulders, chest, and absence of tendon reflexes. Due to rapidly increasing weakness, children experience respiratory failure up to the need for artificial ventilation.

Important! Often, parents of children with excessive muscle weakness try to restore the body with the help of sports sections and physical activity. As a result, the disease progresses even faster.

"Existential Dating"

At that time, I had few friends: my old university friends quickly acquired families and children, which means they could no longer actively communicate with me. So I sat at home all day in a state of crisis. The Internet came to the rescue, where I began to meet other users. One day a guy wrote to me: “I love capybaras.” I didn’t know then that there was such an animal, so I asked: “Which bar?” - and he asked me on a date. Of course, after my boyfriend left me, I was quite skeptical about intergender relationships, but I still accepted the invitation.

Diagnostic methods

Despite the frequent detection of genetic mutations during genetic testing, in some patients with severe clinical symptoms they are absent. Because of this, a genetic blood test is not the main criterion for the disease. In most cases, Landouzy-Dejerine myopathy is diagnosed on the basis of characteristic clinical manifestations, primarily damage to muscles typical of the disease.

The following types of examination are also additionally carried out:

• biochemical blood test to determine the level of creatine phosphokinase;
• muscle biopsy;
• electroneuromyography.

A significant increase in the level of creatine phosphokinase indicates progressive atrophy of muscle tissue. Patients have weak myocyte activity. For histological examination, tissue samples are taken from different parts of the body. The examination reveals characteristic signs of atrophy. Additionally, patients need an ophthalmological examination and consultation with a neurologist.

Important! The course of some diseases is similar to this myopathy. Doctors must carry out differential diagnosis with neurological diseases, autoimmune and connective tissue pathologies.

Accompanying illnesses

Muscle diseases can progress very quickly if they are complicated by other diseases that reduce mobility. Therefore, we make sure to treat concomitant diseases.

Major diseases that can make you feel worse:

• Diseases of the joints and spine (arthrosis, herniated disc, osteochondrosis, etc.) block the mobility of the back and limbs. They can develop due to a shift in the body’s centers of gravity due to muscle weakness. Here we successfully use gentle manual therapy, massage, and Karipazim electrophoresis.
• Chronic tonsillitis, pharyngitis, sinusitis, adenoiditis. The constant presence of pathogenic microbes in the respiratory tract causes constant intoxication, and toxins negatively affect the muscles, especially the heart. Therefore, if necessary, we carry out a course of treatment for these diseases.
• Other chronic infections (kidney, liver, lower respiratory tract).
• Overweight. It is dangerous due to excessive stress on muscles, joints, and spine. Often causes immobility. We identify the causes of obesity and select a treatment plan for it.
• Disorders of the thyroid gland. Metabolic disorders with decreased or increased thyroid function can cause decreased muscle strength. If necessary, we monitor the level of thyroid hormones in the blood and involve an endocrinologist in treatment.
• Vascular diseases (arterial hypertension, cerebrovascular accidents) contribute to heart overload and the rapid development of myopathy of the heart muscle, and hence heart failure. If necessary, we perform cardiac stress tests and select treatment.
• Bronchial asthma leads to oxygen deficiency in muscle tissue, which contributes to muscle weakness and the progression of myopathy. If necessary, we recommend a course of treatment for bronchial asthma.

Treatment

The disease is an incurable diagnosis. There is no pathogenetic treatment. It is also quite difficult to stop rapidly progressive atrophy. Treatment of Landouzy-Dejerine myopathy is aimed primarily at slowing down dystrophic changes that lead to the inability to move and care for oneself, restoring lost functions and generally improving the patient’s condition. Drug therapy is based on the use of medications that support myocytes, improve metabolic processes in them, and have a beneficial effect on the heart. The most commonly prescribed drugs are: ATP-long, Mildronate, Methion, vitamin E, Cytoflavin, cocarboxylase.

The following factors are also important for improving the condition:

• nutrition – it is recommended to increase the amount of proteins and reduce fats;
• physiotherapy – patients are prescribed massage, electrophoresis and other procedures;
• physical therapy – moderate physical activity and a special complex is necessary to prevent the development of scoliosis and contractures.

Considering that myopathy often occurs in childhood, special attention must be paid to the mental state of patients. Often the pathology leads to depressive disorders, nervous breakdowns and emotional disorders. To prevent psychological disorders and improve the emotional state of patients, they need the help of a psychologist or psychotherapist.

For socialization, it is necessary to help patients choose a profession in order to maintain their ability to work.

Watch the video on the topic of the article!

Treatment of myopathy and amyotrophy is our job. Clinic “Echinacea”

We offer you to undergo treatment and training in how to independently perform recovery procedures. The Echinacea Clinic accepts patients from anywhere in Russia and the world.

How treatment and training takes place:

1. It all starts with an initial examination by a neurologist; if necessary, we perform an examination (electromyography, tests, heart studies, and others, based on the results of the examination).
2. Based on the results of the examination and examination, we draw up an individual treatment plan for you for the next 6-12 months (medicines, nutrition, gymnastics and massage, physical therapy, exercise regimen).
3. Then your attending physician and a rehabilitation specialist examine you together and during the examination they clarify the physical rehabilitation program (massage, gymnastics, physiotherapy).
4. The rehabilitator immediately begins a physical rehabilitation program. Within 3-3.5 hours, all necessary procedures are performed, during which the rehabilitator also provides training for the accompanying person (and/or the patient himself) to independently perform the procedures according to the technique that the patient needs. You may need from one to five such classes, daily or every other day. If you are coming from another city, the main program of examination, rehabilitation and training can be completed in 5 days, from Monday to Friday.
5. If spinal deformity (scoliosis) has formed, gentle manual therapy is performed, specially selected for the treatment of myopaths; the procedure is performed by the attending physician personally.
6. If the situation requires it (depression, lack of motivation to maintain health), it is possible to perform more serious psychotherapeutic treatment, various unloading and psychotherapeutic sessions during treatment in the clinic.
7. After 6-12 months, we recommend repeating the consultation, a short course of rehabilitation procedures and receiving a treatment plan for the next 6-12 months.

Upon completion of the course, you will be able to independently perform the procedures necessary to maintain your health. During treatment, general well-being improves, muscle strength increases, and lost motor skills begin to return. You will be given detailed instructions and a treatment plan for the next 6-12 months to complete at your place of residence. If necessary, we will accept you for re-treatment in six months, a year or a longer period of time.

If you are coming to us from another city, we recommend that you come for a period of 5 days - from Monday to Friday. If you do not have this time, the course can be completed in 3 days, although with some losses.

Possible complications

Despite careful study, Landouzy-Dejerine myopathy continues to be a severe pathology. In many ways, the prognosis depends on the characteristics of the course and speed of development of the pathological process. Hypomia and amymia not only limit physical capabilities, but also cause psychological discomfort and difficulties with socialization.

Progression and involvement of other parts of the body in the pathological process leads to significant restrictions, including the inability to move.

In some cases, with damage to the orbicularis oculi muscles and frequent inflammatory processes, patients' vision deteriorates to the point of blindness.

Often, following the doctor’s recommendations helps preserve life expectancy, but in extremely severe forms of the disease, death is possible due to severe respiratory failure.

How to get rid

Treatment of Landouzy-Dejerine muscular dystrophy is carried out only symptomatically, since the genetic pathology cannot be cured. Medicines are taken to slow down the process of muscle breakdown. However, in the end this process will still be inevitable.

There is a method that allows you to stop the progression of the disease. It involves the introduction of fetal stem cells. Breathing exercises, therapeutic massage, and physiotherapy help well.

Prevention of scoliosis is mandatory - it is recommended to carry out special gymnastics, back massage, and wearing a corset.

What do you need to remember?

1. Landouzy-Dejerine myopathy is characterized by progressive atrophy of the muscles of the face, shoulders and shoulder blades.
2. The main cause of the disease is genetic predisposition.
3. Signs of the pathology are hypomimicness and amymicity, muscle weakness and loss of muscle tissue.
4. Treatment is aimed at inhibiting the development of the disease and preventing its progression.
5. Muscular dystrophy leads to disability of the patient due to severe limitations in his capabilities.
6. The prognosis for recovery is unfavorable, since the disease is incurable.

Literature

• Asanov A. Yu. Fundamentals of genetics and hereditary developmental disorders in children: Textbook. manual for university students. - M.: Academy, 2003. - P. 216.
• Badalyan L. A. Child neurology: textbook. allowance. 4th ed. - M.: MEDpress inform, 2021. - 608 p.
• Vlodavets D.V., Sukhorukov V.S., Kharlamov D.A., Belousova E.D. A method for treating congenital structural myopathies and congenital muscular dystrophies by correcting secondary mitochondrial changes: Abstract of thesis. dis. ... Ph.D. - M., 2009. - 28 p.
• Grinio L.P. Atlas of neuromuscular diseases. - M.: ANS, 2004. -167 p.
• Erokhina V. A. Rehabilitation of children with hereditary myopathies // Bulletin of the Moscow University of the Ministry of Internal Affairs of Russia. - 2015. - No. 12. - P. 304-308.
• Arvanitidis A., Henriksen K., Karsdal MA, Nedergaard A. Neo-epitope Peptides as Biomarkers of Disease Progression for Muscular Dystrophies and Other Myopathies // J Neuromuscul Dis. - 2016. - No. 30. - R. 333-346.
• Carroll MB, Newkirk MR, Sumner NS Necrotizing Autoimmune Myopathy: A Unique Subset of Idiopathic Inflammatory Myopathy // J Clin Rheumatol. - 2021. - No. 22. - R. 376-80.
• Inoue M., Nishino I. Diagnosis of Idiopathic Inflammatory Myopathy: A Muscle Pathology Perspective // ​​Brain Nerve. - 2021. - No. 68. - R. 1431-1441.

Diagnosis: myopathy (amyotrophy). What to do?

Today there is no panacea for hereditary muscular dystrophies. However, proper treatment can significantly slow down muscle atrophy and increase regeneration and growth of new muscle tissue, and even restore some lost capabilities . Treatment of myopathy and amyotrophy requires the daily implementation of a number of medical procedures, so we not only provide medical care, but also train the patients’ relatives and/or the patients themselves to independently perform the necessary procedures.

Treatment at our clinic includes the following:

1. Taking medications according to a schedule prescribed for a period of 3-12 months;
2. Medical nutrition;
3. Physiotherapy;
4. Massage;
5. Gymnastics;
6. Psychotherapy and spiritual practices;
7. Neuropsychological development (for children lagging behind in intellectual development).

Detailed training is provided for each of the above points. We insist on training to independently perform procedures, because... We strive to make regular and sufficient treatment also accessible and cheap.