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After falling, he could not stand up using his legs alone and would instead push himself up with his hands (Video 1A). Examination showed inability to stand on one leg, toe walking, a waddling gait, and mild calf muscle hypertrophy. The aspartate and alanine aminotransferase levels were elevated (423 and 588 U/l, respectively). Subsequent testing of creatine kinase showed severe elevation (>19,000 U/liter), and genetic analysis led to confirming a diagnosis of Duchenne muscular dystrophy.
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Markedly elevated liver transaminases can be an underrecognized presentation of skeletal muscle disease; both aspartate and alanine aminotransferases are nonspecific and may rise substantially with muscle-fiber injury. In a child with motor abnormali…