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- W4286275089 abstract "Duchenne muscular dystrophy (DMD) is a hereditary progressive muscular dystrophy with an X-linked recessive type of inheritance, mainly manifested in boys, characterized by an onset at an early age, rapidly progressive atrophy of the striated muscles of the limbs, trunk, and damage of cardiac muscle. This process leads to a gradual loss of motor skills, cardiovascular and respiratory complications, deterioration of the musculoskeletal system, which, ultimately, significantly worsens the patient’s quality of life and reduces its duration. Currently, there are new drugs for the pathogenetic therapy of DMD. Their effectiveness is maximum with early initiation of therapy in the outpatient stage of the disease. Therefore, the age of diagnosis and the ability to suspect pathology in its early stages has become especially relevant in recent years. One of the new treatments for DMD is ataluren therapy. This therapy refers to pathogenetic and similar affects a number of patients with a nonsense mutation in the DMD gene. The combination of ataluren and glucocorticosteroids can increase the duration of the outpatient period and stabilize the state of respiratory and cardiac functions. The article presents a clinical example of a three-year follow-up of a patient suffering from DMD due to a nonsense mutation in the DMD gene, receiving combination therapy with glucocorticosteroids and ataluren." @default.
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- W4286275089 date "2022-06-30" @default.
- W4286275089 modified "2023-10-14" @default.
- W4286275089 title "A clinical case of successful management of a patient with Duchenne muscular dystrophy caused by a nonsense mutation in the DMD gene" @default.
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- W4286275089 doi "https://doi.org/10.46563/2686-8997-2022-3-2-96-100" @default.
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