Myotonia inborn

Myotonia congenital (Thomsen's disease) is a rare hereditary disease characterized by prolonged tonic spasms of the muscles that arise after the initial voluntary movements.

Etiology and pathogenesis. The pathology of muscle membranes is assumed.

Symptoms, course. Despite the inherent nature of the disease, its manifestations first appear in late childhood. A typical symptom is the inability to relax arbitrarily shortened muscles for several tens of seconds. By repeated arbitrary contractions, the patient gradually overcomes the spasm, during which the muscles are sharply compressed when palpating. Myotonic phenomena are significantly intensified in the cold. Percussion of the myotonic muscle causes the formation of a prolonged myotonic cushion. Usually there is generalized hypertrophy of the muscles, giving athletes an athletic appearance. Myotonic spasms can significantly limit the performance of a number of professional and everyday movements. Spasms in the muscles of the legs prevent normal walking. The characteristic pattern of myotonia does not create differential diagnostic difficulties.

The prognosis for life is favorable. With age, the myotonic phenomena weaken.

Treatment. Some relief comes from diphenin, diacarb, quinine.