Diagnostics and contemporary approaches of therapy for the progressive muscular dystrophy in children
Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive neuromuscular disease caused by mutations the dystrophin gene. It affects to the dystrophyn absence or insufficient functional dystrophin.
The aim of our publication is to discuss European and World's experience of early identification and treatment DMD and Pompe disease, care consideration and possible intervention.
Patient's clinical examination and genetic testing are the gold standard for diagnostics DMD. Genetic testing involves multiplex ligation — dependent probe amplification (MLPA) for detecting deletions or duplications of gene dystrophin and detecting small point mutations and nonsense mutation. Contemporary genetic testing helps to find treatment according to some therapy is suitable only for certain types of mutations. The genetic testing is therefore a crucial tool in the accurate diagnosis of DMD and helps avoid missing the opportunity for personalized treatment. Prescription of the disease-modifying drugs have created a turning point in DMD management and it appeared to slow disease progression and prolong ambulation compared to the known natural history.
Genetic testing is important to confirm DMD as early as possible and to justify multidisciplinary care and treatment for the patients in time. Prenatal diagnostics of DMD and genetic counseling of such family members will allow reduce the frequency of newborns with DMD in the future. New genetic techniques and the recent disease-modifying drugs will be able to substantially decrease or delay functional decline in patients with DMD, in particular in children's and young age.
The differential diagnosis with Pompe disease must be conducted in the case of negative genetic findings in the patients with progressive muscular dystrophy. If the diagnosis Pompe disease and its molecular and genetic confirmation are noticed in time, the development hard complications will be prevented. A specific therapy is available, most effective in the earlier stage of the Pompe disease.
Evtushenko S, Evtushenko O, Suhonosova O et al. (2016). Neurology of the early children’s age. Kyiv: Zaslavsky O: 288.
Evtushenko S, Shajmurzin M, Evtushenko O, Evtushenko I. (2014). Neuromuscular disease in children. Donetsk: Knoweledge press: 218.
Svystilnyk V, Trischynska M. (2017). Contemporary approaches of the progressive muscular dystrophy in children. Social pediatrics and rehabilitation. 3—4(15—16): 101—102.
Anna Kostera-Pruszcyk. (2017). Nowosci w diagnostyce i leczeniu chorob nerwowo-miesniowych. Postepy w diagnostyce i leczeniu chorob ukladu nerwowego u dzieci. Opracowane zbirowe pod redakcia S. Jozwiaka. tom 15. Lublin: BiFolium: 170.
Eugenio Mercuri, Ros Quinlivan, Sylvie Tuffery-Giraud. (2018). Early diagnosis and treatment — the use of ataluren in the effective management of Duchene muscular dystrophy. European Neurological review. 13; 1: 31—37. https://doi.org/10.17925/ENR.2018.13.1.31
Josef Zamecnik. (2018). Pathophysiology and the role of muscle biopsy in vacuolar myopathies: hunting for hidden clues. Proc. the 4 EAN Congress Lisbon (Portugal). www.musclegenetable.fr.
Strothotte S et al. (2010). Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage type 2: 12-month results of an observational clinical trial. J Neurology. 257(1): 91—97. https://doi.org/10.1007/s00415-009-5275-3; PMid:19649685
Tiziana Nongini. (2018). Pompe disease and differential diagnosis of muscle diseases: an overwiew. Proc. the 4 EAN Congress Lisbon (Portugal). www.elsevier.com/locate/ymgme
Tsao CY. (2012). Duchene muscular dystrophy. In the book Pedro Weisleder. Manual of pediatric neurology. New Jersey, London, Singapore: World scientific Publishing Co. Pte. Ltd: 241. https://doi.org/10.1142/9789814324205_0009