Myotonia Thomsen: clinic, diagnosis, treatment

A vast group of genetically heterogeneous diseases of the nervous system, which are inherited, constitute neuromuscular diseases. Myotonia is a kind of such pathology. This disease is represented by various syndromes. The work of ion channels of chlorine and sodium changes. An increase in the excitability of membranes in muscle fibers is observed. Visible are toned disorders and a permanent or transient muscle weakness. In this article, myotonia Thomsen will be considered.

Types of myotonic syndromes

Myotonic syndromes can be dystrophic and non-dystrophic. The first group consists of dominantly inherited diseases, the clinical picture of which consists of three leading syndromes:

• myotonic;
• is dystrophic;
• is vegetative-trophic.

The dystrophic form is accompanied by delayed relaxation of the muscles after their tension, increasing muscular weakness and dystrophy( atrophy) of the skeletal musculature.

Description of the

ailment Myotonia Thomsen( Leiden-Thomsen) is a genetic disease that affects the striated muscle. The onset of tonic muscle spasms is due to the completion of active activity, motor activity is disrupted.

The disease is an autosomal dominant type of inheritance, which is rare: according to statistics, Thomsen's myotonia is found in seven people per million. The appearance of the first signs of the disease falls on the age of 8 to 20 years, then they accompany the person all his life. Men are more likely to suffer from this kind of myotonia.

Causes of

pathology The mutation of the CLCN1 gene leads to this hereditary disease. In etiopathogenesis, the myionviral conductivity is disrupted and the pathology of the intracellular membranes is observed, which is caused by a decrease in the penetration of the plasmolemma for chlorine ions into the muscle fibers. The defect eventually leads to an ionic imbalance: chlorine ions do not penetrate inside, but accumulate on the surface of the microfibril, forming bioelectric instability in the muscle membrane.

How does the innate myotonia of Thomsen manifest?

In muscles, acetylcholine is increased, an enzyme that regulates the excitability and contractility of muscle fibers. In cerebrospinal fluid and blood reduces its activity.

Such a tissue defect is typical of different myotonia. With the help of light microscopy, it is possible to detect hypertrophy of certain muscle fibers. Than she threatens? Muscle tissue of the second type decreases, mild hypertrophy of the sarcoplasmic reticulum of muscle cells develops, the size of the mitochondria increases, the telophragm of the striated muscle increases, all this can be seen in electron microscopy.

Symptoms of

In Thomsen's myotonia, the detection of external clinical signs does not occur immediately after birth. In general, the appearance of the first signs falls on children and adolescents.

The peculiarity of the myotonic phenomenon is:

• muscle hypotension in a calm state;
• hypertension, spasmodic muscle fibers at the time of effort;
• prolonged muscle relaxation after the onset of movement.

Myotonic attacks can touch the legs, arms, muscles of the shoulders, neck, face. The desire to spread your fingers, clenched into a fist, take a step, close your jaw, close your eyes accompanied by muscle spasms.

Mytonia Thomsen-Becker physical development of the child is difficult if the first signs of the disease were found in early childhood. The kid can not sit, get up, go to the deadline set for each action, his body is unmanageable.

In any arbitrary movement at a later age, myotonic attacks of skeletal muscles are manifested when walking, lifting from the place, keeping the balance. The first motor act in the patient is accompanied by a sharp muscle spasm, after which the person is immobilized. If you want to climb it, you need to rely on something. It is given with great difficulty is the first step, sometimes tonic spasms lead to the fall of the patient. At maximum effort it is difficult to unclench fingers that are gathered into a fist, it can last up to ten seconds. In subsequent movements, spasms cease.

Active activity contributes to the fact that the affected muscles adapt to the movement, no spasms are observed at all. But a short rest leads to hypertonic muscle manifestation with the same strength. With Myotonia Thomsen, the clinic is characteristic.

In adult age, a patient with such a diagnosis has an athletic appearance, since the disease affects the muscles of the limbs and trunk and because of their constant overstrain, muscle mass grows. The muscles are hypertrophic and look large. They strongly strain even with weak external stimuli. Even with a slight impact on the affected muscles, their hypertonicity arises. There is a tensioned roller of muscles, which requires time to relax.

At the very beginning of an arbitrary movement that requires the participation of diseased muscles, and when cold is affected, a myotonic attack is observed. There are a large number of other provoking factors such as a long stay in a static position, a sharp loud sound, an emotional splash.

How to identify pathology?

Diagnosis by external signs can be determined easily. It is important to carefully collect a family history and features of clinical manifestations.

At the first admission, a neurologic hammer is used by a specialist. With a slight tapping on the problematic muscle areas, the neurologist determines the ability of the muscles to contract and fixes the relaxation time after the irritating effect. If a roller is formed at the point of contact, this indicates a myotonic symptom.

The doctor suggests the patient to squeeze his fingers into a fist and try to unclench them. The first movements can be given with difficulty, and then there is a normalization of the motor, which means that there are tonic spasms.

Muscle tissue is in a tone even at rest, tendon reflexes show myotonic signs.

The tonic symptom complex is not unique to Thomsen's myotonia. He accompanies the paramyotomy of Eilenburg, myotonium Becker, myotonia Steiner, as well as other neuromuscular and endocrine disorders. The differentiation of the diagnosis and the designation of a certain type of myotonia are quite complex in diagnosing.

Diagnosis of the disease

So, with myotonia Thomsen, the diagnosis is as follows. It is advisable to design invasive and laboratory tests:

• A muscle biopsy that can detect histological changes in the fibers that lead to muscle cell dysfunction.
• Biochemical blood test. Specific biochemical markers for this disease are absent. In this way, the level of activity of creatine phosphokinase is determined in the blood serum.
• DNA test. It allows the mutation of the CLCN1 gene to be determined. Analysis is needed to confirm the clinical diagnosis.
• Electromyography( EMG).Needle electrode allows to conduct this invasive study. A relaxed muscle is injected with a tool, myotonic discharges are detected, and the potential of motor units is recorded. The muscles are stimulated with an electrode and a tapping, which leads to their reduction. Repeated stimulation reduces the power of myotonic spasms.
• Electroenterography( ENMG).Diagnosed by stimulation with electric impulse functional state of muscle tissue and ability to contract. With ENMG, surface( cutaneous) and intramuscular( needle) electrodes are used. Graphical registration of the potential of motor units is carried out by needle electrodes. What kind of treatment for myotomy Thomsen?

Myotonia therapy

Complete recovery can not be achieved. The main goal of physiological and drug therapy is to eliminate symptoms and achieve a stable remission. Effectively the appointment:

• "Mexiletina" - a blocker of sodium channels, the action of which is aimed at reducing hypertonic muscle.
• Diuretic drugs - to maintain ionic equilibrium, maintain magnesium levels and reduce potassium.
• "Diphenine" is an effective anticonvulsant.
• "Diacarba" - improves the permeability of membranes.
• "Quinine" - reduces the excitability of the muscles, increases the refractory period.

All medicines have numerous side effects.

Physiotherapy

Improvement of metabolic processes in muscle tissue and its tonic spasms is achieved with the help of:

• exercise therapy;
• electrophoresis;
• acupuncture;
• therapeutic swimming.

Preventive measures

Prevalence of Thomsen's myotonia is low. The disease is characterized by a favorable prognosis, but it is impossible to permanently get rid of myotonic attacks. Preventive measures facilitate the patient's condition and give a chance to live a full life.

It is necessary to exclude the factors provoking myotonic seizures. It is unacceptable to hypothermia, stressful situations, intense physical activity, sudden movements, prolonged exposure to one posture, emotional shocks.

We have reviewed myotonia Thomsen, clinic, diagnosis, treatment.