Modern principles of diagnosis and treatment of Duchene muscular dystrophy (update 2018)
| Autor: | L.G. Telnova, E.P. Pomazunovskaya, M.I. Prikhodko, N.R. Buginska, M.A. Gonchar, O.L. Logvinova |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | Sovremennaâ Pediatriâ, Iss 4(92), Pp 91-97 (2018) |
| ISSN: | 2412-4508 1992-5913 |
| Popis: | The article describes the course of progressive muscular dystrophy due to the mutation of 52 exons of the dystrophin gene as well as differential clinical and biochemical markers of various types of muscular dystrophy. The authors presented their own clinical observation of the severe form of progressive muscular dystrophy — Duchene's dystrophy in maternal probands. The disease onset among the brothers differed in terms of the first manifestations: the cousin had the onset at four years of age and the disease in the proband started in 18 months that was evidenced by the well-known phenomenon of anticipation — «rejuvenation» of the disease in younger relatives. The modern methods of diagnosis and treatment of the disease in children, which is supported by excerpts from the world protocols, and the results of clinical trials are demonstrated in the article. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|