CLINICAL CASE OF DUCHENNE MYODYSTROPHY

Abstract

The paper describes a clinical case of Duchenne myodystrophy at the stage of manifestation of clinical manifestations. The problems of diagnosing mutations in the DMD gene are considered. The paper presents clinical and laboratory data for Duchenne myodystrophy. It is noted that the difficulty of clinical diagnosis of Duchenne myodystrophy is associated with the presence of a preclinical period, in which the main diagnostic marker is an increase in transaminases, lactate dehydrogenase and creatine phosphokinase, as well as varying degrees of severity of clinical manifestations. Low alertness of doctors to hereditary pathology at the preclinical stage of the disease was noted. Molecular genetic diagnosis is difficult due to the large size of the DMD gene, which, when the reading frame is violated, gives a large number of different mutation variants. It is noted that modern pathogenetic therapy of this disease is ineffective, and the most promising areas of etiological treatment are gene therapy and cell technologies. Conclusion. Difficulties in diagnosing hereditary myodystrophy are associated with low awareness and alertness of doctors regarding hereditary pathology. For the effective treatment of patients with Duchenne myodystrophy, it is necessary to introduce etiological methods of treatment into medical activities