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- Title
Duchenne Muscular Dystrophy (DMD): overview and pathomechanism.
- Authors
Ferlini, Alessandra
- Abstract
Duchenne muscular dystrophy is an X-linked neuromuscular disease, affecting mainly males, with an incidence of about 1: 3500-5000. The first symptoms usually appear at the age of 2-3 years, when boys do not run as quickly as their peers, have problems with climbing stairs, and fall more often. The typical biochemical abnormalities include increased activity of CK and AST/ALT. Subsequently, with the progressive weakening of muscles, boys lose the ability to walk around the age of 10-13 years. Later on, during adolescence, the respiratory function deteriorates and cardiomyopathy may appear. Steroid therapy, gold standard therapy, diminishes muscle tissue inflammation, prolongs the period of independent walking, as well as delays the deterioration of pulmonary and cardiac function. Mutations of the dystrophin gene lead to the impaired production of dystrophin protein - an important component of dystrophin-associated complex (DAPC), that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix. Different types of mutations generally result in severe DMD (out-of-frame) and benign BMD (in-frame) phenotypes, although there have been exceptions described. Research regarding the role of different dystrophin isoforms, produced due to alternative splicing and found in other than muscular, tissues are conducted in relation to autism or other developmental disorders. Also, the regulatory role of non-coding RNA molecules in the course of DMD is currently being analyzed.
- Subjects
DUCHENNE muscular dystrophy; NEUROMUSCULAR diseases; DISEASE incidence; MUSCLE weakness; DISEASE progression; DYSTROPHIN genetics
- Publication
European Journal of Translational & Clinical Medicine, 2023, Vol 6, p19
- ISSN
2657-3148
- Publication type
Article