Paramyotonia Congenita

Paramyotonia Congenita is a rare genetic disease that belongs to the group of myotonic dystrophies. This is a hereditary disease that manifests itself in the form of increased muscle sensitivity to cold and physical stress.

People with Paramyotonia Congenita have a range of symptoms that may appear with mild physical exertion or exposure to cold. One of the most characteristic symptoms is that the muscles begin to contract and fail to relax for several seconds or minutes after the person stops using those muscles. The manifestation of symptoms can be either temporary or permanent.

Paramyotonia Congenital is caused by a mutation in a gene that controls the function of ion channels responsible for transmitting signals in muscles. This leads to disruption of the transmission of nerve impulses in the muscles, resulting in the inability of the muscle to quickly relax after contraction.

Diagnosis of Paramyotonia Congenital is carried out on the basis of clinical signs and the results of genetic analysis. Treatment for this disease is aimed at reducing symptoms and preventing their occurrence.

An important aspect of treating Paramyotonia Congenital is avoiding exposure to cold and avoiding physical activities that may trigger symptoms. Medicines, such as anticonvulsants, may also be used to help reduce the frequency and strength of muscle contractions.

In conclusion, Paramyotonia Congenita is a rare genetic disorder that causes muscles to become hypersensitive to cold and physical stress. Diagnosis and treatment of this disease should be carried out under the supervision of specialists, as this will help reduce the frequency and strength of muscle contractions and improve the quality of life of patients.

**Paramiotonia** is a hereditary pathology of the neuromuscular system in which muscle fibers suddenly contract when exposed to cold.

In 1891, neurologist Max Nicolet became interested in this disease. One day he visited a patient and noticed that the muscle fibers were periodically contracting

**Congenital paramyotonia** (another name is **Paramyotonia congenes**, from the Greek *para* - around, near, near + *myo-*- muscle + *tonos* - muscle contraction, tension), this is a rare constitutional a disorder in which the muscles cannot relax completely and become stiff in the cold. This phenomenon often occurs with muscle defects or other neurological disorders.

Congenital paramyotonia is characterized by prolonged relaxation of muscle fibers when exposed to heat and their contraction when cold, that is, the dependence of properties on the ambient temperature, in contrast to muscle damage by myotonia, which retain the ability to contract regardless of temperature or according to the ambient temperature. A disease of parenchymal embryonic myocyte fiber located in striated muscles and leading to a decrease in the production of the mitochondrial enzyme succinate dehydrogenase, which disrupts the biosynthesis of the universal ATP acceptor - coenzyme Q (CoQ).

The peculiarity of this pathology is that outwardly people may seem completely healthy, but during intense physical activity they lose the ability to control the work of their muscles for a long time. Many nerves branch along the muscle vessels, and at the periphery, inhibitory “nerve elements” react to physiological changes in the temperature of muscle tissue, and the centers in