Diagnostics and contemporary approaches of therapy for the progressive muscular dystrophy in children
DOI:
https://doi.org/10.15574/SP.2019.97.138Ключевые слова:
Duchenne muscular dystrophy, Pompe disease, disease-modifying therapyАннотация
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.
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