Medico-genetic study of myopathies in a population of Pamir and Karategin valley of the Tadzhik SSR

The clinic-genealogical and population-genetical studies were undertaken to reveal the myopathia patients. The frequency of myopathies in a population of Tajiks, their clinical polymorphism and the course of the pathologic process, depending on factors of environment were studied. In the population of Pamir people, who were exposed to external conditions, 25 patients with the neural amyotrophy, 8 patients with shoulder, shoulder-blade and face form of progressive muscle distrophy, 4 patients with Erba's PMD and 3 with the pseudohypertrophic Dushen form were revealed. High frequency of the neural amyotrophy was connected with the marriage election of the population, its isolation and accumulation of heterozygote carriers. Earlier onset of progressive muscle distrophy was connected with sharp change in climate and great physical burdens which led to the disarrangement of the adaptation system. It was established that 17 patients with the shoulder-blade and face form of the PMD, 5 patients with the sporadic form of the neural amyotrophy, 3 patients with the Dushen's PMD, 2 patients with the Erba's PMD and 1 patient with the spinal amyotrophy inhabited Karategin valley having the continental climate. The high level of migration of these populations resulted in dissemination of the gene in the valley regions. The quantity of abortions and still-borns in families suffering from myopathy is fewer than in Pamir.