Myotonia

Myotonia [myatonia; from the Greek. mys, myos - muscle atonia and - weakness, lethargy; synonym: amyotonia congenital (amyotonia congenita), a disease Oppenheim] - a congenital condition that is manifested by a sharp restriction, and often a complete lack of active movement. The disease usually manifests with the first days of life, in more rare cases, parents find it in a few weeks or even months after birth, when the child comes time to grab handles, keep head, to sit, to walk. In some cases the disease is detected only after any intercurrent diseases - pneumonia, dysentery. Sometimes mothers indicate that during pregnancy, they are almost or even didn't feel the movements of the fetus. In some cases we documented a similar disease, the brothers and sisters. View of the small number of these observations type of inheritance has not been studied.
Oppenheim believed that the basis of the pathogenesis of mutonyi lies congenital hypoplasia of the muscles, independent or dependent delay the development of the gray matter of the spinal cord, his front horns. Some authors bring together metoniu with spinal amyotrophy werdnig - Hoffmann (see muscular Atrophy).
Postmortem studies is relatively small. According to A. I. Abrikosov and Century, Arkhangelsk, if mutonyi in the front horns spinal cord reduces the number of nerve cells, especially large, as well as the number of nerve fibers in the backs of the front and in the peripheral nerves many bezmalinovic fibers and empty newelem; all the muscles very thin due to the extreme subtlety they are composed of muscle fibers.
Active movements in the extremities, especially at the bottom, is very limited or absent. The muscles of the neck are also very weak, due to which the children do not attend, but are not, not sitting, not holding the head (Fig. 1) and little or no can capture the subject in hand. Facial muscles are affected rarely. Sometimes the pathological process extends to the intercostal muscles, causing difficulty breathing. Aperture, chewing and swallowing muscles, apparently, in the process never involved. Objective examination reveals dramatic hypotonia or full atony muscles. This atony allows passive movements in significantly increased against norm volume (Fig. 2). Sometimes there loose joints, in some cases secondary contracture.
During feeling the muscles are thin, soft, languid, but strong atrophy usually not the case. Mechanical anxiety sharply lowered or absent. Fibrillar twitching not observed. Tendon reflexes or sharply reduced, or eliminated; reflexes cutaneous and mucous membranes saved. Elektrovozoremontnij muscle is reduced, but the reaction of degeneration no. The mind does not change. The disease progresses, as in a typical forms of muscle atrophy, if mutonyi does not happen. In some cases, myotonia slowly regresses, so over the years may come a significant improvement, and patients can begin to walk independently.
In typical cases, it is necessary to exclude acute poliomyelitis, progressive spinal muscular atrophy type werdnig - Hoffmann, multiple neuritis.
Treatment. Electrification, massage and passive exercises; strengthening and toning treatment: iron, phosphorus, fish oil and other; in some cases showed improvement from the use of calcium salts from the injection prozerina.
Cm. also, muscular Atrophy.