Myotonia

Myotonia (synonym disease Thomsen) is a hereditary disease of the neuromuscular system, characterized by a kind of movement disorders in the form of a tonic muscle spasms, coming in the initial phase of active movement. The disease is the dominant type. Hampered muscle relaxation after a strong reduction in the beginning of the movement. Muscle remains contracted to a few seconds, then slowly relaxed. Subsequent movements gradually to make everything easier, and spasms completely cease. However, after a rest, even briefly, tonic spasm of muscles appears with the same force. Spasms capture the muscles of the limbs, trunk, and facial. Cramps worse with excitement and cooling. The first symptoms of myotonia develops in childhood or adolescence and stored in patients life. Patients are often different athletic, well muscled. The Outlook is favorable, but it requires the right choice of a speciality, not associated with the rapid motor responses,is contraindicated work of the driver, pilot, conveyer and other
Allocate atrophic myotonia, which along with myetodichyeskiye symptoms are marked endocrine and degenerative disorders. In patients detected atrophy of the muscles of the face, neck, forearms and hands, and impotence in men, early menopause in women, early cataracts, alopecia, tooth loss, dry skin.
Treatment of myotonia mainly symptomatic. The purpose of ascorbic acid and quinine (inside of 0.3-0.5 g 3-4 times a day) temporarily reduce spasms. Shows the preparations of calcium and diet, poor potassium (restriction of potatoes and other). Recommended thermal procedures in the form of light and water baths, iontophoresis with calcium and quinine, massage and physiotherapy.
Cm. also Hereditary diseases.

Myotonia (myotonia; from the Greek. mys, myos - muscle and tonos - voltage) - a special state of muscles, which is expressed in the fact that the reduced muscle long time not relax, and then relaxation is happening, but extremely slowly. This phenomenon is characteristic of arbitrary striated muscles, but can be observed in involuntary smooth muscle.
Myotonia arbitrary muscles in its pure form is expressed in a particular disease, which is called congenital myotonia.
Congenital myotonia (myotonia congenita, disease Thomsen) refers to hereditary diseases of the neuromuscular system, see specific disorders of the motor - tonic muscle spasms in the initial phase of active movement.
Etiology not yet known. The disease is inherited in families but frequent and sporadic cases transmitted autosomal gene that is inherited dominant.
The pathogenesis of the disease is associated with hereditary due to changes of currency in muscle tissue. Apparently, there is a violation of enzymatic processes associated with the initial phases of muscle contraction. Due to the positive effect of ACTH with the innate myotonia suggested insufficient napochechnikov functions in violation of the ion balance of potassium.
Pathological anatomy. In the Central and peripheral nervous system abnormalities not revealed. The increase in the transverse size of the muscle fibers, smoothness transverse acercandose, increasing the number of cores sarcolemma.
Over and symptoms. The first symptoms appear in early childhood or adolescence, increasing to 20 years and stored in patients life.
Noted the difficulty relax muscles after a strong reduction. This occurs at the beginning of voluntary movements: muscle, came to the state tonic spasm, keeps condensed a few seconds, and then slowly relaxed. Subsequent movements gradually eased and become normal. However, after a rest, not even for a long, Mironichenko muscle spasm resumes with the same intensity. Early symptom is a disorder of the gait. Especially difficult first steps. Sometimes the rapid movement patients lose balance and fall. Tonic spasms also capture the muscles of the arms, torso and face. Particularly difficult movement of the hand and fingers (for example, clenching opening and closing the fingers into a fist). Cramps worse with excitement and cooling and faint from receiving alcohol. Muscle strength in patients with reduced compared to the norm. There is an increase of mechanical and electrical excitability of muscles under normal irritability of nerves. In the study of elektrovozoremontnij detected slow relaxation of the muscles, known as the "Mironichenko reaction". Notes a change of skin and tendon reflexes, which also Mironichenko character. Sometimes there is myotonica reaction of pupils on convergence and light irritation.
The forecast is favorable, but requires a correct choice of profession patient, not associated with the rapid motor responses (work in transport, pipeline and others).
Treatment is essentially symptomatic. Assign ascorbic acid and quinine inside (0.1-0.5 g 3-4 times a day) or by intramuscular injection (2 ml of 50% solution of 1 time per day), and thus temporarily reduce the severity Mironichenko syndrome. Treatment with high doses ACTH (80-100 UNITS daily for 8 to 12 days) usually gives also a superficial effect. Shown calcium supplements and diet, poor potassium. Recommend heat treatments in the form of light and water baths, iontophoresis with calcium and quinine, massage and moderate physical therapy. Cm. also Hereditary diseases.
Myotonia atrophic (myotonia atrophica; synonym: dystrophic myotonia, myotonica dystrophy, a disease of Kursman - batten - Steinert) is, apparently, independent disease, although some attempts to combine it with congenital myotonia. The disease begins relatively late age, characterized by the steadily increasing over and join mythicism atrophic symptoms of paralysis.
Etiology. The disease is transmitted in an autosomal dominant pattern. Studies of chromosomal complex in the culture of peripheral blood leukocytes revealed an extra chromosome in the group of small acrocentrics (chromosomes with distal located centromeres).
In the pathogenesis of atrophic myotonia leading role played by the insufficiency of the adrenal glands.
Over and symptoms. Mironichenko syndrome is especially developed in the muscles of the fingers and masseter muscles, atrophic paralysis, are located in the muscles of the face, shoulders, and then distributed on a limb. Especially characteristic is the atrophy sternoclavicular-sokovyh muscles. Expressed endocrine disorders in the form of infantilism and infertility in women and the violation of sexual function in men. Very often early cataract, atrophy of skin, alopecia, and other
Forecast: the disease progresses steadily and leads to profound disability.
Treatment is the same as with congenital myotonia, but ineffective. Cm. also Paramythia congenital.