Misdiagnosis in Muscle Diseases

01.08.2016
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Having cared for both children and adults in six neuromuscular programs or clinics, I am continually amazed at the inaccurate diagnosis far too many patients receive. Several months ago a teenage youth sent me an e-mail saying he had been playing varsity basketball when he started to develop mild muscle weakness.

A neurologist in a prominent medical school diagnosed the patient as having limb-girdle muscular dystrophy and wanted him to have multiple genetic tests. I spoke with his parents and persuaded them to take the teenager to the Mayo Clinic in Minnesota  because I felt sure he had a treatable myositis. My diagnosis was correct and with good prednisone therapy the youth is now back on the basketball court. 

Quite a few years ago a study was done showing that 50% of the diagnoses made on patients with neuromuscular disorders were incorrect. I would agree with that statistic and it may be even higher. This is particularly true in the U.S. where there is little money  in caring for neuromuscular disorders and our medical schools often give their students little exposure to these patients.

One of the real problems is with the diagnosis of Duchenne muscular dystrophy. This is the usual diagnosis that physicians seem to make when they have a boy with proximal muscle weakness and a high CPK. How wonderful it is to find that a boy does not have MD, but  has a treatable dermatomyositis or polymyositis. Any age child can myositis. It can be a viral myositis or one in the group of disorders with rheumatoid arthritis (JRA) or lupus. 

Image copyright: David Goehring, flickr, CC BY

Article last time updated on 25.08.2016.

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