Thomsen Disease

Thomsen disease is a hereditary and familial lesion of the striated musculature, manifested by prolonged relaxation of the muscles after their contraction. In addition to the typical myotonic phenomenon, the disease is characterized by hypertrophic changes in the affected muscles, manifestation from the lesion of the hands, frequent involvement of facial muscles. Thomsen disease is diagnosed on the…

Becker’s Myotonia

Becker’s myotonia is a pathology with an autosomal recessive type of inheritance caused by hyperexcitability of muscle fibers of skeletal muscles and manifested by a violation of muscle relaxation after their contraction. The clinical picture of the disease consists of a myotonic symptom complex, manifested first in the lower and then in the upper extremities.…

Myotonia

Myotonia is a hereditary disease related to channelopathy (diseases associated with the pathology of ion channels). It is manifested by delayed muscle relaxation. Characteristic signs are myotonic discharges detected by needle EMG, and myotonic phenomena that are detected during clinical examination. Congenital form is accompanied by muscular hypertrophy, dystrophic form, on the contrary, is accompanied…

Myopathy

Myopathy are a group of diseases based on various disorders in the metabolism and structure of muscle tissue, leading to a decrease in the strength of the affected muscles and restriction of motor activity. Typical features of myopathy are: progressive muscle weakness, the development of muscle atrophy, a decrease in tendon reflexes and muscle tone.…

Myoclonic Epilepsy

Myoclonic epilepsy is a disease based on myoclonic epileptic paroxysms. Episodes of myoclonic seizures in patients are combined with generalized clonic-tonic seizures, absences. Concomitant neurological symptoms depend on the form of epilepsy. Diagnostics includes anamnesis collection, assessment of neurological and mental status, electroencephalography, genealogical analysis, biochemical studies, neuroimaging. Treatment is carried out with anticonvulsants, with…

Myositis

Myositis is an inflammatory process in skeletal muscles. It can affect any muscle. The most characteristic common symptom is local pain in the muscle (or muscles), which increases with movements and palpation. Over time, due to the protective tension of the muscles, there may be a limitation of the volume of movements in the joints.…

Microgyria

Microgyria is a rare form of cortical dysplasia, for which it is typical to reduce the size of the convolutions of the cerebral cortex (CC) with an increase in their total number. The disease occurs due to monogenic anomalies, intrauterine neuroinfections, and other congenital structural diseases of the central nervous system. Microgyria is manifested by…