Overview Snapshot A 4-year-old boy is brought to his pediatrician by his mother for muscle weakness. She reports that he has trouble running with his friends and climbing the stairs. She also states that the patient has increased difficulty arising from a seated position on the ground and walks in a "waddling" way. On physical exam, there is significant proximal muscle weakness and pseudohypertrophy of the bilateral calves. He also has Gower sign. Laboratory testing is notable for a significantly elevated creatine kinase and aldolase. A sample is obtained for genetic analysis of the dystrophin gene. (Duchenne muscular dystrophy) Introduction Clinical definition login to view 1 more bullet Epidemiology login to view 8 more bullets Etiology login to view 8 more bullets Pathogenesis login to view 9 more bullets Prognosis login to view 6 more bullets Presentation Symptoms login to view 3 more bullets Physical exam login to view 6 more bullets Studies Labs login to view 2 more bullets Genetic testing login to view 1 more bullet Dystrophin analysis login to view 5 more bullets Biopsy login to view 3 more bullets Differential Limb-girdle muscular dystrophy Spinal muscular atrophy Treatment Management approach login to view 1 more bullet Medical login to view 10 more bullets Complications Muscular login to view 1 more bullet Cardiac login to view 2 more bullets Orthopedic login to view 1 more bullet