出版社：International Medical Journal Management and Indexing System
摘要：Duchenne muscular dystrophy (DMD) is an inherited, progressive, neuromuscular disorder. DMD is a sex-linked recessive disease which results in the absence of dystrophin, a protein found inside the muscle cell membrane. It is characterized by progressive atrophy and weakness of skeletal muscle, skeletal-spinal deformities, limb contractures, and restrictive lung disease resulting in life threatening pulmonary problems. Despite recent research developments, it continues to remain as a fatal disease. One such case of sudden death in a 22-year-old male who was diagnosed to have DMD is being reported here. He presented with waddling gait, toe walking, and difficulty in standing up and hence was diagnosed to have DMD at the age of 6 years. There was steady and progressive loss of muscle strength. One day he became suddenly breathless, collapsed and died. The death was attributed to respiratory failure due broncho-pneumonia a sequel to DMD after medico-legal autopsy.
