Rossolimo-Steinert-Kurschmann dystrophic myotonia
Rossolimo-Steinert-Kurschmann dystrophic myotonia is a hereditary disease, the progression of which occurs at an extremely slow pace. This disorder is inherited only by the autosomal dominant type, which is extremely rare – the frequency of cases ranges from 2 patients to 5 per 100,000 population.
The content of the article:
Causes of the development of Rossolimo-Steinert-Kurshman myotonia
Symptoms and signs of classical Rossolimo-Steinert-Kurschmann myotonia
Symptoms of Rossolimo-Steinert-Kurschmann myotonia of congenital type
Diagnosis of Rossolimo-Steinert-Kurshman myotonia
Treatment of Rossolimo-Steinert-Kurshman myotonia
Rossolimo-Steinert-Kurschmann dystrophic myotonia
The disease is multisystem and is characterized by variable penetrance of the pathological gene. Concomitant signs are arrhythmia, pathologies of the endocrine system, deterioration of intelligence. The disease is classified into two types: congenital and classical.
Causes of the development of Rossolimo-Steinert-Kurshman myotonia
Rossolimo-Steinert-Kurschmann myotonia is always a genetically transmitted defect. The key cause of its development is considered to be a violation in the DMPK gene located on the nineteenth chromosome. The severity of the course of the disease is directly proportional to the number of trinucleotide CTGs. Normally, this indicator is approximately 5-37, at 50-80 there is a mild form of the disease, at 100-500 — a late severe form.
Under the influence of a violation of the DMPK gene, myotonin protein kinase, a protein localized in skeletal and muscular tissue, in the myocardium, central nervous system, etc., changes in the body, which provokes the appearance of myotonic spasms combined with atrophy of the muscles of the face, neck and extremities in the distal zones. In fact, hypertrophy of some muscle fibers occurs with simultaneous atrophy of others. As a result, some of these fibers are replaced either by other fibers, or by fatty or connective tissues.
Symptoms and signs of classical Rossolimo-Steinert-Kurschmann myotonia
The very first signs of myotonia may appear already at the age of 6-7 years, but most often they become clearly visible in adolescence and young age from 10 to 20 years. In the list of these signs there is myopathy, cataracts, lesions of the central nervous system and cardiovascular system, endocrine disorders.
The main symptom is the presence of muscle spasms, in which the masticatory facial muscle and the flexor muscle of the hand are mainly affected. Also, experts always note atrophy of various muscles, including distal parts of all limbs, temporal, sternocleidomastoid, facial. There is a myopathic paresis of the larynx with difficulty breathing, voice changes, deterioration of lung ventilation, sleep pathologies and aspiration and stagnant pneumonia. Due to changes in muscle tissues and premature extinction of tendon reflexes, gait changes occur in most patients.
In about 50% of cases, patients complain of a symptom such as arrhythmia, along with which there may be blockage of the legs of the Gis bundle, as well as hypertrophy of the left heart ventricle.
On the part of the SNS, the disease causes hypersomnia, a decrease in intellectual abilities, it is not uncommon for patients to have a mild form of debility. Due to pathologies of the endocrine system, sexual disorders occur. In young women, the changes consist in the manifestation of hirsutism, menstrual cycle failures and early menopause, in young people — in a decrease or absence of attraction and impotence, cryptorchidism and hypogonadism.
Representatives of both sexes have a common symptom of Rossolimo-Steinert-Kurschmann myotonia — these are changes in the structure of the hair with their subsequent loss. In men, baldness occurs in the area of the temples and forehead, in women there is a local focal or diffuse disorder.
Symptoms of Rossolimo-Steinert-Kurschmann myotonia of congenital type
The congenital type of myotonia can be noticed by a specialist even during the stay in the mother’s womb. Such a fetus does not show increased motor activity. Therefore, if a pregnant woman notices such behavior of the baby in the abdomen, she should necessarily undergo an ultrasound in the last three months before giving birth.
Signs of myotonia are also present in newborns. This is hypotension of the facial, masticatory muscles, distal zones of the extremities, eyeballs. In addition, respiratory disorders are not uncommon. A little later, symptoms such as oligophrenia and delayed motor development appear. The progression of these pathologies can occur at different rates. With the rapid pace of their development, the death of a patient from the disease can befall him at a very early age.
Diagnosis of Rossolimo-Steinert-Kurshman myotonia
A specialist’s suspicions of this disease can be caused by a combination of any myotonic manifestations and dystrophic changes in muscle tissues that occur simultaneously with a lag in intellectual development, disorders of the endocrine and cardiovascular systems. The presence of all these signs in the patient requires confirmation of the diagnosis in the form of the results of genealogical analysis, the results of which indicate an autosomal dominant type of genetic inheritance. In addition, DNA analysis data should be obtained for accurate diagnosis. Additional studies are also needed: electromyography, electroneurography, electrocardiogram, hormonal background analysis.
Finding out the exact diagnosis in case of suspected presence of Rossolimo-Steinert-Kurschmann myotonia requires a comprehensive study of the patient’s condition and the work of almost all of his organs. Therefore, specialists in genetics, cardiology, gynecology, andrology and endocrinologists can be involved in the diagnosis process.
When diagnosing, it is necessary to pay attention not only to the changes that appear externally and are characteristic of Rossolimo-Steinert-Kurschmann myotonia, but also to the data on muscle biopsy and electromyographic examination.
During the biochemical analysis, the muscle enzyme and its level in the tissues are studied, which is always elevated in this disease. A prerequisite for making an accurate diagnosis is the antenatal diagnosis of myotonia by amniocentesis.
Differential diagnosis of Rossolimo-Steinert-Kurshman myotonia
It is necessary to differentiate Rossolimo-Steinert-Kurschmann myotonia from other known types of myotonia, which in some situations may have similar signs and course. Muscle tissue atrophy is characteristic exclusively for this disease and allows you to quickly distinguish it from Thomsen’s myotonia, a sign of which is muscle hypertrophy. Early facial muscle damage and dominant inheritance distinguish it from Becker’s myotonia. In addition to these conditions, it is necessary to differentiate Rossolimo-Steinert-Kurschmann disease from ALS and Charcot-Marie-Tut amyotrophy.
Treatment of Rossolimo-Steinert-Kurshman myotonia
In modern medical practice, there is currently no therapy designed to completely cure people of Rossolimo-Steinert-Kurschmann myotonia. Patients who have this disease are prescribed a diet based on products with a minimum level of potassium or without it at all. People suffering from this myotonia should not be overcooled, since low temperatures can provoke spasms at any time.
To reduce the risk of their sudden appearance and improve the general condition of the patient, he is prescribed the following drugs: quinine, novocainamide, diphenine simultaneously with diacarb. To these medications, experts recommend adding mandatory intake of anabolic steroids: nerobol, retabolil, methylandrostenediol. It is also necessary to include small doses of ATP and B vitamins in the list of mandatory substances.
The above drugs have a good effect both in the classical and in the congenital type of the disease. All these measures can reduce the negative effects of the disease on the patient’s body and prolong his life, but they are not able to completely rid him of myotonia and make him an absolutely healthy person again.
