CONGENITAL MYOPATHY: CLINICAL – NEUROLOGICAL, NEUROPHYSIOLOGICAL AND BIOCHEMICAL CHARACTERISTICS
Keywords:
neuromuscular diseases, congenital myopathies, clinical picture, diagnosis, electromyographyAbstract
Clinical, laboratory and neurophysiological signs of congenital myopathies were analyzed. 56 patients aged 2 to 15 years who were under observation in the department of medical and genetic counseling of the Republican Center for Mother and Child Screening (Tashkent) from 2018 to 2023 were prospectively analyzed. When studying the pedigrees of patients with CM, in 39 cases the marriage was related, which amounted to 70%. It was found that in 38% of cases (27 families) there were patients with a similar disease in the families.1 Having analyzed the data of clinical and biochemical examinations at the time of initial treatment, a direct correlation was identified only between age and the degree of damage to the muscular system, at the same time the level of CPK in blood serum reflected the level of motor disorders only in the terminal stages of the disease and was not a marker of the effectiveness of the treatment measures. With needle EMG, the primary muscle type of changes is revealed, while the spontaneous activity of muscle fibers is either absent or insignificant.
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