Misdiagnosis in Muscle Diseases

Share article

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.

5 rating(s) (5 ø)
Users must be logged in to comment Login
Click here and become a medical blogger!
I was teaching medical students last week and urged them to always get a chest X-ray if they were puzzled about a more...
It is always painful to hear accounts of doctors who make statements that are false for which they  have no basis. more...
Jennifer Dunaway, the mother of a son with hemophilia, has kindly written the guest post below. My great thanks to more...


PR-blogs on DocCheck are sponsored blogs which are published on DocCheck by commercial providers additionally to regular userblogs. They may contain promotional statements. DocCheck is not responsible for this content.

Copyright © 2018 DocCheck Medical Services GmbH
Follow DocCheck: