Open AccessL.O. Badalyan and current progress in the study of hereditary neuromuscular diseases
Author(s) -
Н. Н. Заваденко,
Н. Н. Заваденко,
D. Vlodavets,
D. Vlodavets
Publication year - 2020
Publication title -
nevrologičeskij žurnal imeni l.o. badalâna
Language(s) - English
Resource type - Journals
eISSN - 2712-794X
pISSN - 2686-8997
DOI - 10.17816/2686-8997-2020-1-01-64-72
Subject(s) - medicine , genetic diagnosis , muscular dystrophy , limb girdle muscular dystrophy , physical medicine and rehabilitation , genetics , biology , gene , mutation
Hereditary neuromuscular diseases (HNMD) represent a large group of heterogenic morbid conditions, characterized by muscular weakness, muscular atrophies, disturbances of postural control and locomotor functions. Scientific research on HNMD, performed by academician L.O. Badalyan and his followers laid the background for solving many issues, regarding the diagnosis and treatment of these severe, progressive diseases. In many ways, academician L.O. Badalyan and his followers have anticipated the current understanding of pathogenic mechanisms of HNMD, which later were disclosed by means of modern molecular-genetic technologies. HNMD include progressive muscular dystrophies (PMD), spinal muscular atrophies (SMA), hereditary motor and sensory neuropathies, myopathic syndromes. The most prevalent progressive HNMDs are represented by dystrophinopathies (Duchenne PMD and Becker PMD) and limb girdle HNMD. The authors discuss experience and achievements in the studies of HNMDs and PMDs, conducted by academician L.O. Badalyan and his followers, as necessary prerequisites for the creation of modern approaches to genetic diagnostics of the diseases and forming their genetic registries, development of methods of etiopathogenetic therapy. Thanks to the accumulated experience and research there were discovered genes, which determine the HNMD development, pathogenic mechanisms of diseases with heterogenic clinical manifestations were studied. The data were accumulated for the formation of patients registries, determining groups for which a particular drug is being developed. The progress in genetic research has made it possible to identify more than 30 forms of limb-girdle PMD. A newly published classification of limb-girdle PMD is given, illustrating their genetic heterogeneity, the type of inheritance, the genetic locus of the mutation and defective protein are now taken into account. The article lists promising current global trends in the development of approaches to pathogenetic therapy of dystrophinopathies and limb-girdle PMD.