Current diagnosis and treatment of Duchenne muscular dystrophy

Abstract

Duchenne muscular dystrophy (DMD) is an X-linked progressive disease from the group of primary myopathies caused by mutations in the DMD gene and a lack of dystrophin protein in the muscle fiber in males. The review considered the prevalence of pathology, the most common causes of dystrophinopathy, and the role of dystrophin not only in the functioning of muscles but also in the architectural organization of the Central nervous system. The disease classification based on stages and forms, initial clinical manifestations of the early and late stages of the disease, as well as neuropsychological, orthopedic, respiratory and cardiovascular disorders, are described in detail. The relevant to date diagnostic algorithm for suspected DMD, biochemical blood analysis, genetic, morphological (immunocytochemical staining of muscles with dystrophin antibodies) and instrumental (ultrasound, MRI) methods of examination are presented in detail. Particular attention in the diagnosis of DMD and objectification of disorders is given to assessment tests [Baileys and Griffiths scales, Albert's Test of Infant Posture and Motor Assessment Scale, Expanded Hammersmith Functional Motor Scale (HFMSE), the Gross Motor Function Measure (GMFM), and the 6-minute walk test (6MWT)]. The review presents the advantages and disadvantages of modern invasive and non-invasive diagnostic techniques of the disease, indicating their reliability and the possibility of application at early stages, including prenatal. In conclusion, the treatment of DMD and its most frequent complications, both widely used in practice and at the stage of clinical research, is highlighted. It was emphasized the importance of rehabilitation measures that improve the duration and quality of life of patients with DMD. The main task of analyzing available sources on the most pressing issues of Duchenne muscular dystrophy was to stimulate research and social activity in resolving unsolved problems today.

Differential diagnosis of cytolysis syndrome in a 4-year-old child

“…У них нечеткая речь, снижается интеллект, развивается кардиомиопатия, повышается уровень аминотрансфераз и креатинфосфокиназы (КФК) в сыворотке крови. Окончательный диагноз выставляется после проведения генетического обследования [7].…”

Accumulation of Dystrophin-Positive Muscle Fibers and Improvement of Neuromuscular Junctions in mdx Mouse Muscles after Bone Marrow Transplantation under Different Conditions

“…It is one of the most clinically severe and common muscular dystrophies in humans [1][2][3][4]. DMD affects approximately 1 in 3500-6300 live-born boys worldwide, causing a severe loss of muscle mass and function and leading to death in the late teenage years due to respiratory or cardiac failure [5,6]. Furthermore, DMD is associated with various mutations in the DMD gene that encodes the protein dystrophin.…”

“…However, although numerous studies have been conducted, an effective treatment for DMD remains elusive. Currently, gene therapy methods and cell therapy studies are being developed with the aim of finding methods of treating DMD [5,[12][13][14][15]. Significant progress has been made in the development of exon skipping methods, but numerous difficulties remain.…”