Muscular dystrophies Duchenne/Becker
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Abstract
Background: Muscular dystrophies are a type of myopathies, mostly of genetic etiology, characterized by progressive muscle weakness. Within muscular dystrophies, Muscular Dystrophy of Duchenne / Becker (DMD / B) is the most frequent. It is produced by genetic variations in the DMD gene, leading to the absence or deficiency of the dystrophin protein.
Topic: Dystrophin is a protein that is part of a complex. In the absence of the protein, some are generated that lead to the degeneration of the muscle fiber. It has a variable clinical spectrum, being the less severe and later onset form considered as Becker Muscular Dystrophy in comparison to the Duchenne Muscular Dystrophy of early onset and of greater severity, however, in some cases its classification is not so easy in this way. DMD / B does not have a curative treatment and currently treatments are focused on symptomatic relief and management of complications. New therapies have recently been developed that aim primarily at correcting the molecular defect in the DMD / B gene by inducing the expression of a functional or semi-functional protein.
Conclusions: DMD / B is the most frequent and severe type of muscular dystrophy, which generates great disability and with a short life prognosis. Early diagnosis is essential for the establishment of management, which must be multidisciplinary, with the aim of delaying the onset of loss of muscle function and loss of ambulation.
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References
2. Wein N, Alfano L, Flanigan KM. Genetics and Emerging Treatments for Duchenne and Becker Muscular Dystrophy. Pediatr Clin North Am. 2015;62(3):723–42.
3. Ryder S, Leadley RM, Armstrong N, Westwood M, De Kock S, Butt T, et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: An evidence review. Orphanet J Rare Dis. 2017;12(1):1–21.
4. Sansović I, Barišić I, Dumić K. Improved detection of deletions and duplications in the DMD gene using the multiplex ligationdependent probe amplification (MLPA) method. Biochem Genet. 2013;51(3–4):189–201.
5. Bushby, K,. Finkel, R,. Birnkrant, DJ,. Caso LE., Clemens, PR,. Cripe, L., et al. Diagnóstico y tratamiento de la Distrofia Muscular de Duchenne. Part 2: Implementación de la atención multidisciplinar. Lancet Neurol. 2010;2(9):177–89.
6. McKusick V, Tiller G. Muscular dystrophy, duchenne type; dmd. OMIM® - Online Mendelian Inheritance in Man®. https://www.omim.org/entry/310200?search=dmd&highlight=dmd. (Fecha de consulta: 16 de Agosto, 2018).
7. Aartsma-Rus A, Ginjaar IB, Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Genet. 2016;53(3):145–51.
8. García-Acero M, Pineda T, Guerra-Torres M, García-Robles R, Ayala-Ramírez P, Buitrago T, et al. Análisis del espectro mutacional de la distrofia muscular de Duchenne en un grupo de pacientes colombianos. Neurol Arg. 2018;10(3):137-146.
9. de Sá C dos SC, Fagundes IK, Araújo TB, Oliveira ASB, Fávero FM. A relevância da avaliação do controle de tronco na distrofia muscular de Duchenne: A Segmental Assessment of Trunk Control. Arq Neuropsiquiatr. 2016;74(10):791–5.
10. Flanigan K. The Muscular Dystrophies. Semin Neurol. 2012 Nov;32(03):255–63.
11. Bello L, Pegoraro E. Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy. Acta Myol myopathies cardiomyopathies Off J Mediterr Soc Myol. 2016;35(3):122–7.
12. Guía de práctica clínica para la detección temprana, atención integral, seguimiento y rehabilitación de pacientes con diagnóstico de distrofia muscular.Bogotá: Ministerio de Salud y Protección Social, 2014.
13. Falzarano MS, Scotton C, Passarelli C, Ferlini A. Duchenne muscular dystrophy: From diagnosis to therapy. Molecules. 2015;20(10):18168–84.
14. Drachman DB, Toyka K V, Myer E. Prednisone in Duchenne muscular dystrophy. Lancet. 1974;2(7894):1409-12.
15. Wong BL, Rybalsky I, Shellenbarger KC, Tian C, McMahon MA, Rutter MM, et al. Long-Term Outcome of Interdisciplinary Management of Patients with Duchenne Muscular Dystrophy Receiving Daily Glucocorticoid Treatment. J Pediatr. 2017;182:296-303.e1. doi: 10.1016/j.jpeds.2016.11.078.
16. Aartsma-Rus A, Straub V, Hemmings R, Haas M, Schlosser-Weber G, Stoyanova-Beninska V, et al. Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues. Nucleic Acid Ther. 2017;27(5):250-9. doi: 10.1089/nat.2017.0682.