Duchene’s muscular dystrophy: a clinical case

Background. Muscular dystrophy is a heterogeneous group of genetic disorders characterized by progressive loss of skeletal muscles. Duchene's muscular dystrophy (MDD) is one of the most common and pronounced forms of muscular dystrophy associated with the X chromosome on a recessive feature and belongs to the class “Dystrofinopathy”. Dystrophinopathy develops in the hereditary absence of a membrane protein of dystrophin, which is responsible for the integrity of the muscle cell cytoskeleton. MDD develops quite slowly and is asymptomatic at an early stage. In the subsequent course of the disease there are severe lesions of skeletal and respiratory muscles, heart, delayed psycho -language development and organic lesions of the nervous system. Multiple insufficiency in such patients causes high rates of early mortality. Aim. The purpose of the work is to describe a clinical case of a rare Duchene muscle dystrophy disease with a patient who was treated with a regional clinical hospital with a more detailed study of pathomorphological changes in this pathology. Methods. The material for the study was a clinical case of Duchene's muscular dystrophy in a patient who died in the Emergency Medical Assistance Department of the KNP Choir "Regional Clinical Hospital" in Kharkiv with a clinical diagnosis: Duchene's muscular dystrophy. The patient's medical history and the autopsy protocol were studied. Histological examination was performed using the following painting methods: hematoxylin-eosin, van Gizon, Congo red, Perls reaction. Results. Autopsy revealed the following pathomorphological changes: lesions of skeletal muscles - scoliosis, pseudogipertrophy of the calf muscles; respiratory damage and cardiomyopathy pathology, which have led to the development of decompensated right ventricular heart failure in the patient. Conclusion. MDD is a rare progressive disease that is inherited with dystrophin protein deficiency. Pathology occurs in early childhood and leads to muscle tissue. Most patients die from pulmonary - heart failure. In this case, the pathomorphological changes that occur in this disease are described.