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Sara Meade, Ian Woolhouse
Am J Case Rep 2008; 9:263-266
Background: Myotonic dystrophy is notoriously difficult to diagnose and is often a later thought in the diagnostic process. Presentation of this condition can be varied and it may take several months to identify the problem.
Case Report: This case discusses a gentleman with clinical features and a family history of myotonic dystrophy, but due to a history of excessive alcohol, his frequent presentation to hospital was attributed to his addiction rather than his neuromuscular disorder. This case highlights the need to see beyond those cases of drug and alcohol addiction to look for other diagnoses as a reason for recurrent attendance to hospital.
Conclusions: This case demonstrates the need for early diagnosis as complications can have significant long-term effects. Early referral to a specialist unit is necessary once the diagnosis is made. As medics, it is easy to overlook other possible diagnoses, especially when there is a concurrent addictive problem. Although uncommon, myotonic dystrophy also has important implications for other family members, who will require genetic screening.