Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases

Area of Science:

• Neurology
• Hepatology
• Genetics

Background:

• Elevated aminotransferases (AST/ALT) are common clinical findings.
• Extensive work-up often focuses on hepatic pathology.
• Extrahepatic causes can be overlooked.

Observation:

• A 24-year-old combat veteran presented with persistent elevated aminotransferases.
• Initial liver investigations, including biopsy, were unremarkable.
• Further testing revealed elevated creatinine kinase and aldolase.

Findings:

• The patient was diagnosed with biopsy-proven dysferlin-deficient muscular dystrophy.
• This highlights a rare cause of transaminase elevation.
• Musculoskeletal pathology can mimic liver disease.

Implications:

• Persistent transaminase elevation warrants consideration of extrahepatic sources.
• Early detection of myopathies like muscular dystrophy is possible.
• Correlating aminotransferase levels with muscle enzymes aids diagnosis.