Pediatric Definition - Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy which is also consider as pseudohypertrophic infantile in this case, is an X linked recessive disorder. It commonly present in children age 2 to 6 years.
Patient may present with walking on toe, clumsiness, lumbar lordosis, wadding gait, postive Gower maneuver with delays in motor skills, easy fatigability while running, climbing stairs and walking. There will be pseudohypertrophy of triceps or gastrocnemius.
There will be spontaneous mutation at the Xp21. The creatine kinase enzyme increase by
100 times. Muscle biposy may reveal muscle degeneration with variation of the fiber size.
The complication of Duchenne muscular dystrophy may include respiratory distress, cardiomyopathy, progressive scoliosis and patient will be wheelchair bound.
The treatment of Duchenne muscular dystrophy may inlcude corticosteroids, calcium and vitamin D for osteoporosis and supportive care for respiratory and cardiac failure.
Duchenne muscular dystrophy which is also consider as pseudohypertrophic infantile in this case, is an X linked recessive disorder. It commonly present in children age 2 to 6 years.
Patient may present with walking on toe, clumsiness, lumbar lordosis, wadding gait, postive Gower maneuver with delays in motor skills, easy fatigability while running, climbing stairs and walking. There will be pseudohypertrophy of triceps or gastrocnemius.
There will be spontaneous mutation at the Xp21. The creatine kinase enzyme increase by
100 times. Muscle biposy may reveal muscle degeneration with variation of the fiber size.
The complication of Duchenne muscular dystrophy may include respiratory distress, cardiomyopathy, progressive scoliosis and patient will be wheelchair bound.
The treatment of Duchenne muscular dystrophy may inlcude corticosteroids, calcium and vitamin D for osteoporosis and supportive care for respiratory and cardiac failure.