Case Study 3
George, a 4-year-old boy was brought to a genetic clinic with a chief complaint that the boy showed difficulty with motor skills (walking, running, hopping, jumping) accompanied by breathing difficulty, fatigue and frequent falls. On examination he was found to have scoliosis (deformities of the chest and back). An electromyography (EMG) revealed pseudohypertrophy, loss of muscle mass (wasting), muscle contractures in the heels, legs and muscle deformities. Identify the genetic disorder, pathogenesis, clinical features, inheritance pattern, diagnosis and management.
Solution: The disorder is identified as Duchene Muscular Dystrophy (DMD). DMD is an X-linked recessive genetic disorder which results in progressive muscle degeneration ...
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