A 21-Year-Old Man Comes to the Office with Impaired Balance

A 21-year-old man comes to the office with impaired balance, tremor, and difficulty speaking.  His symptoms have developed slowly over the last several months.  The patient is found to have elevated serum transaminases.  Viral hepatitis serologies are negative.  He does not use tobacco, alcohol, or illicit drugs.  He has a sibling who was diagnosed at a young age with a progressive neurologic disease.  Which of the following diagnostic studies would be the most helpful for confirming the diagnosis in this patient?

A) Anti-smooth muscle antibodies
B) Genetic testing for triplet repeat expansions
C) MRI of the brain
D) Serum alpha-1 antitrypsin level
E) Serum ferritin and transferrin saturation
F) Slit lamp examination

Correct Answer:

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