A new case report published in Cureus describes how an infant with elevated liver enzymes was diagnosed with Duchenne muscular dystrophy (DMD) well before any motor symptoms appeared. Researchers say the case underscores the importance of recognizing atypical DMD presentations, particularly when transaminitis (raised levels of enzymes called AST and ALT) persists without any signs of liver pathology.
The case study involved an infant who presented with frequent vomiting and persistently high transaminase levels but no signs typically associated with liver dysfunction, such as jaundice or enlarged liver. Instead of continuing down a liver-focused pathway, the clinical team expanded their investigation.
Creatine kinase testing revealed marked elevation, a common sign of muscular dystrophy. Genetic testing confirmed a pathogenic mutation in the DMD gene.
This sequence of events meant the child was diagnosed with DMD long before the onset of visible weakness or motor delays. Typically, families and clinicians only suspect the condition once gait abnormalities or delayed milestones emerge. In this case, it was a biochemical signal that sounded the alarm.
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The study’s authors say the case report adds to growing recognition that isolated transaminitis in children, especially boys, should not be viewed solely through a hepatology lens.
“ALT and AST are enzymes commonly associated with hepatocellular injury, but they are also found in the membranes of the skeletal muscles, heart, liver, and intestines,” the researchers wrote. “This broader tissue distribution explains the elevation of these enzymes in muscular dystrophies such as DMD. Their elevation in infants, especially when unaccompanied by other signs of liver disease, presents a valuable opportunity to consider neuromuscular conditions before more overt signs such as delayed milestones or motor weakness emerge,” they continued.
Other studies have documented similar cases where elevated liver enzymes were the first abnormal finding, with Duchenne or Becker muscular dystrophy later confirmed.
The clinical implications are significant, as earlier recognition means earlier access to supportive therapies, genetic counselling and emerging treatment options.
“Early genetic diagnosis is crucial for timely intervention and improved long-term outcomes,” the authors concluded.
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