• Modern principles of diagnosis and treatment of Duchene muscular dystrophy (update 2018)

Modern principles of diagnosis and treatment of Duchene muscular dystrophy (update 2018)

SOVREMENNAYA PEDIATRIYA.2018.4(92):91-97; doi 10.15574/SP.2018.92.91

Gonchar M. A., Logvinova O. L., Pomazunovskaya E. P., Telnova L. G., Buginska N. R., Prikhodko M. I.
Kharkiv Medical University, Ukraine
Communal Health Protection Institution «Oblast Children's Clinical Hospital», Kharkiv, Ukraine

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.
Key words: progressive muscular dystrophy, Duchene dystrophy, diagnosis, treatment, children.

References

1. Birnkrant DJ, Bushby K, Bann CM et al. (2018). Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 17(4): 347–361.

2. Birnkrant DJ, Bushby K, Bann CM. et al. (2018). Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 17(3): 251–267.

3. Bushby K, Finkel R, Birnkrant DJ et al. (2010). Diagnosis and management of Duchenne muscular dystrophy, part 2: implemenetation of multidisciplinary care. Lancet Neurol. 9(2): 177–189.

4. Manzur AY, Kuntzer T, Pike M et al. (2016). Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev. http://www.cochrane.org/CD003725/NEUROMUSC_corticosteroid-therapy-duchenne-muscular-dystrophy.

5. Muntoni F, Wells D. (2007). Genetic treatments in muscular dystrophies. Curr Opin Neurol. 20: 590–594.

6. Van Ommen GJ, van Deutekom J, Aartsma-Rus A. (2008). The therapeutic potential of antisense-mediated exon skipping. Curr Opin Mol Ther. 10: 140–149.