Paramythia congenital

Paramythia congenital [paramyotonia congenita; synonymous with paramythia of eilenburg A. Eulenburg)] is a rare disease characterized by tonic spasms of muscles, coming under the influence of cold (Fig)
Paramythia congenital disease family. Hereditary transmission occurs in an autosomal dominant pattern. Men and women have equal frequency. The disease is not progressing.
Histopathological picture of muscles is not different from the pattern observed in myotonia.
The pathogenesis of the disease is unknown, but probably boils down to some still outstanding infringement of metabolism. There are indications of significant fluctuations of potassium in the blood of patients with congenital paramythia. Cramps usually affect certain muscle groups (the muscles of the neck, face, limbs, swallowing muscles). Often suffer circular muscle of the mouth (m. orbicularis oris) and muscle century (m. palpebrarum). Cramps can last from 15 minutes to several hours and, unlike congenital myotonia Thomsen (see Myotonia), do not disappear in repeated movements. The disease can be detected at birth, and experienced mother noticed her newborn by their abnormal movements, too long to close eyes when you wash them with cold water, and so on Damp cool weather, lowering the temperature to 10-12° cause a seizure. Under the influence of heat cramps usually within a few minutes disappear. In the muscles of the tongue can be detected mechanical myotonica reaction. Typical electric myotonica reaction is usually absent. Electrical excitability of nerve normal.
Muscles do not grow thin and not exaggerated.

Brush the patient, suffering from congenital paramythia: top - up cooling; below - after cooling.

The peculiarity of congenital paramythia is that the spasms are accompanied by paralysis, which after the termination spasms may last several more days, in some cases, they go into complete paralysis; tendon reflexes are reduced or disappear, disappear and elektrovozoremontnij muscles. Appearances are often localized in the proximal limbs and can last for a long time after cooling. Such paresis after cooling in some cases in the foreground at very poorly defined Mironichenko symptoms. Lewandowski (M Lewandowsky) described these States are called "cold paralysis". Cold paralysis Lewandowski and paramythia of Eilenburg are obviously the same disease.
Treatment. Effective therapy exists yet. In a number of observations paresis were amenable to treatment, usually used with myo (see).