Duchenne muscular dystrophy: Literature review

Diana Bukauskaite1, Ugne Grimutiene1 

1 Lithuanian University of Health Sciences, Academy of Medicine, Faculty of Medicine, Kaunas, Lithuania


Duchenne muscular dystrophy (DMD) is a severe, rapidly progressing, inherited neuromuscular disease which manifests with muscle weakness leading to increasing disability. DMD is caused by mutations in the DMD gene which encodes a dystrophin protein. The most common mutations are deletions, although more than 7000 different mutations are possible. Boys with DMD have a stereotypical pattern of progression of muscle weakness: it begins with the muscles of the proximal limbs and trunk area, further including the muscles of the upper extremities and finally the distal muscles. Other typical symptoms are bilateral hypertrophy of the calf and other muscles, observed contractures, Gowers symptom, children walking staggered. Next to the clinic, specific laboratory, genetic tests and, in cases than mutation is not found, muscle biopsy and electromyography must be done. In the treatment of DMD patients, corticosteroids are the standard for disease management, but there are medications like ataluren and eteplirsen that have effect on specific mutations. Supportive medications which relieve symptoms may be prescribed to prevent muscle damage, reduce inflammation, improve regeneration and etc. Multidisciplinary patient care is very important as well. Monitoring of organ systems allows early detection and treatment of disease related complications. The aim of the treatment is to prolong patient survival and improve quality of life.

Aim: To analyze the scientific literature about etiopathogenesis, diagnostic methods and treatment of Duchenne muscular dystrophy.

Methods: literature sources were selected from PubMed and Cochrane Library scientific databases, selecting only reviews from 2015 to 2020 in English, using the key words in the original language: “Duchenne muscular dystrophy”, “muscular dystrophy”, “Duchenne muscular dystrophy diagnostics”, “Duchenne muscular dystrophy treatment”, “dystrophin gene”.

Keywords: Duchenne muscular dystrophy, muscular dystrophy, Duchenne muscular dystrophy diagnostics, Duchenne muscular dystrophy treatment, dystrophin gene.