Preview

Neuromuscular Diseases

Advanced search

Adequate managment of patients with dystrophinopathies (muscular dystrophy Duchenne/Becker): objective scales and additional diagnostic methods

https://doi.org/10.17650/2222-8721-2014-0-3-13-19

Abstract

There are still no guidlines on managment of Duchenne/Becker myodystrophy in domestic medical practice. It leads to decrease of quality of life and, what is more important, lifespan of patients. In this article we have described our Western coleagues lаst decade experience, including consensus guidelines published in 2010 on mаnаgment of Duchenne myodystrophy, supplemented with our practicle experience. We have described standardized motor development scale and muscle tone score for patients with MDD/MDB, and algorithm of multidiscipline care with focus on prevention, diagnosis and treatment of main disease and steroid therapy complications: cardiovascular, orthopedics, respirator etc. These recommendations not only improve quality of live and extend lifespan of MDD/MDB patients, but allow to take part in multicentre trials on searching of pathognomonic and symptomatic treatment.

About the Authors

A. S. Nosko
ROS “Specialists on Neuromuscular Disorders Society”, Moscow
Russian Federation


A. L. Kurenkov
SBEI RMAPGS Ministry of Public Health Russia, Moscow
Russian Federation


S. S. Nikitin
FSBSI “Sientific Centre of Children Health”, Moscow
Russian Federation


V. P. Zykov
ROS “Specialists on Neuromuscular Disorders Society”, Moscow
Russian Federation


References

1. Emery A.E. The muscular dystrophies. Lancet 2002;359:687.

2. Rivier F., Meyer P., Walther-Louvie U. et al. Врожденные мышечные дистрофии: классификация и диагностика. Нервно-мышечные болезни 2014;1;6–20.

3. Bushby K., Connor E. Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings. Clin Investig (Lond)2011;1(9):1217–35.

4. Mayhew A.G., Cano S.J., Scott E. et al. Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurology 2013;55:1046–52.

5. Montes J., Gordon A.M., Pandya S. et al. Clinical outcome measures in spinal muscular atrophy. J Child Neurol 2009;24(8):968–78.

6. Kissel J.T., Scott C.B., Reyna S.P. et al. SMA carni-VAL trial part II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. PLoS One 2011;6(7):e21296.

7. Swoboda K.J., Scott C.B., Crawford T.O. et al. SMA Carni-VAL trial part I: doubleblind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy. PLoS One 2010;5(8):e 12140.

8. Bushby K., Finkel R., Birnkrant D.J. et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol 2010;9:177.

9. Darras B.T. Treatment of Duchenne and Becker muscular dystrophy. Official Topic from UpToDate®. 2014. 23 p.

10. Nolan M.A., Jones O.D., Pedersen RL., Johnston H.M. Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies. Neuromuscul Disord 2003;13:129.

11. Colan S.D. Evolving therapeutic strategies for dystrophinopathies: potential for conflict between cardiac and skeletal needs. Circulation 2005;112:2756.

12. Duboc D., Meune C., Lerebours G. et al. Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy. J Am Coll Cardiol 2005;45:855.

13. Jefferies J.L., Eidem B.W., Belmont J.W. et al. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation 2005;112:2799.

14. Passamano L., Taglia A., Palladino A. Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients. Acta Myologica 2012; XXXI: 121–5.

15. Finder J.D., Birnkrant D., Carl J.et al. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am J Respir Crit Care Med 2004;170:456.

16. Birnkrant D.J., Bushby K.M., Amin R.S. et al. The respiratory management of patients with duchenne muscular dystrophy: a DMD care considerations working group specialty article. Pediatr Pulmonol 2010;45:739.

17. Do T. Orthopedic management of the muscular dystrophies. Curr Opin Pediatr 2002; 14:50.

18. Cheuk D.K., Wong V., Wraige E. et al. Surgery for scoliosis in Duchenne muscular dystrophy. Cochrane Database Syst Rev 2013; 2:CD005375.

19. Bachrach L.K. Taking steps towards reducing osteoporosis in Duchenne muscular dystrophy. Neuromuscul Disord 2005; 15:86.

20. Biggar W.D., Bachrach L.K., Henderson R.C. et al. Bone health in Duchenne muscular dystrophy: a workshop report from the meeting in Cincinnati, Ohio, July 8, 2004. Neuromuscul Disord 2005;15:80.

21. Quinlivan R., Roper H., Davie M. et al. Report of a Muscular Dystrophy Campaign funded workshop Birmingham, UK, January 16th 2004. Osteoporosis in Duchenne muscular dystrophy; its prevalence, treatment and prevention. Neuromuscul Disord 2005;15:72.


Review

For citations:


Nosko A.S., Kurenkov A.L., Nikitin S.S., Zykov V.P. Adequate managment of patients with dystrophinopathies (muscular dystrophy Duchenne/Becker): objective scales and additional diagnostic methods. Neuromuscular Diseases. 2014;(3):13-19. (In Russ.) https://doi.org/10.17650/2222-8721-2014-0-3-13-19

Views: 4871


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2222-8721 (Print)
ISSN 2413-0443 (Online)