Sudden death due to duchenne muscular dystrophy: A case report

Abstract

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 a 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 duebroncho-pneumoniaa sequel to DMD"after medico-legal autopsy.