A severe case of Duchenne muscular dystrophy manifested with scoliosis and muscle contractures in 21-year-old male: a rare clinical image

Duchenne muscular dystrophy (DMD) is a severe and progressive genetic condition that causes muscular degeneration and weakening due to a lack of dystrophin, a necessary muscle protein. Duchenne muscular dystrophy, which is typically diagnosed in early childhood, causes loss of mobility and other difficulties, having a substantial influence on the quality of life and life expectancy of people affected. It is inherited as an X-linked recessive inheritance. Here we report a case of a 21-year-old male with muscle weakness and wasting in the whole body, with severe crippling deformities and contractures with scoliosis. He had developed the symptoms of DMD at the age of 3 years and had been confined to a wheelchair for the past 11 years. He had a thin and emaciated appearance, poor nourishment with signs of malnutrition- prominent bones and visible ribs, as well as reduced activity level. Deformities were seen with flexion contractures in the fingers and wrist, showing a claw-like appearance of the hand. Contractures and equinis foot deformity were seen contributing to difficulties in ambulation. There was no observable gait due to the patient´s inability to walk, and he relied on a wheelchair for mobility. He had undergone various investigations, including an enzyme test in which the creatine kinase is extremely elevated at 4800 U/L with a reference level of 24-195 U/L. Also, a genetic blood test showed the deletion of Exon 45. He is currently receiving corticosteroid tablets prednisone(1mg) and deflazacort (1.3mg) once a day and has been receiving home-based physiotherapy after completion of physiotherapy at the hospital.