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CASE PRESENTATION • 9 year old boy well until 4 years, was able to walk and run Now presents with • Difficulty in walking and frequent fall for the last 5 years and getting up awkwardly from lying down or sitting position,needing support of railings while climbing up and down stairs. • He was taking some medicine but had no relief. Duchenne muscular dystrophy • Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy. DMD usually becomes clinically evident when a child begins walking. Patients typically require a wheelchair by age 10 to 12 and die in their late teens or early 20s. • Duchenne muscular dystrophy(DMD), is inherited in an X-linked recessive pattern, meaning that the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes, and is thus considered sex-linked. • Age at onset: two to six years; symptoms include general muscle weakness and wasting (Gower's sign is present); affects pelvis, upper arms, and upper legs; eventually involves all voluntary muscles; survival beyond 20 years is rare. • Duchenne muscular dystrophy is caused by mutation of the gene for the dystrophin protein Signs and symptoms • Progressive Muscular weakness • Poor Balance ,Frequent Falls ,Walking Difficulty ,Waddling Gait ,Limited Range of Movement • Calf Pain • Muscle Contractures • Respiratory Difficulty • Drooping Eyelids (ptosis) • Gonadal atrophy • scoliosis (curvature of the spine) • Inability to walk • Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy. DMD usually becomes clinically evident when a child begins walking. Patients typically require a wheelchair by age 10 to 12 and die in their late teens or early 20s. STAGES OF PROGRESSION OF DMD • • • • Initial Phase Transitional Phase Loss of ambulation phase End of life phase INVESTIGATIONS • S.CPK high. • CXR • .ECG and 2 D Echocardiography may suggests early cardiomyopathy • EMG –suggestive of muscle disease –no evidence of denervation • PCR-intragenic deletion identified at Xp21 locus • Muscle biopsy may demonstrate low DYSTROPHIN level • The diagnosis of muscular dystrophy is based on the results of a muscle biopsy. MANAGEMENT • • • • • • No curative treatment Physiotherapy mainstay of treatment Provision of appropiate orthoses Nutritional management to avoid undernutrition/obesity Glucocorticoid (PREDNISOLONE) Early detection and treatment of respiratory and cardiac complications reduces morbidity,improves quality of life and prolongs survival • Gene therapy experiments to restore dystrophin to the skeletal and cardiac muscle