Akademik Veri Yönetim Sistemi
Clues for Differential Diagnosis of Neuromuscular Disorders, Diniz G., Editör, Springer Nature, Aarau, ss.219-248, 2023
Congenital myopathies form a clinically, genetically, and morphologically heterogeneous group of neuromuscular disorders. They generally present with hypotonia (±muscle weakness) in the neonatal/infantile period, in some cases, the first symptoms occur in the juvenile or adult period. They occur due to structural defects within muscle fibers, affecting the contractile matrix, excitation-contraction coupling, T-tubules, and sarcoplasmic reticulum while muscle membrane stability is spared. They are also a type of neuromuscular disorder, pathologically characterized by myopathic changes, such as differences in myofiber sizes, internalized nuclei, and the presence of degenerating fibers. Structural abnormalities in a muscle biopsy are classified according to abnormally located organelles and intracellular bodies. These classifications include nemaline myopathy, central core disease, multi-mini core myopathy, centronuclear myopathy, congenital fiber-type disproportion and others. With developments in the field of molecular genetics, these diseases have been associated with more and more genes. Thus, pathological classification and a classification based on molecular genetics are used together. This chapter addresses the congenital myopathies and its subgroups through an overview of the disorder and their pathological and genotype features.