Differential diagnosis

Alan E H Emery, Francesco Muntoni and Rosaline Quinlivan

in Duchenne Muscular Dystrophy

Fourth edition

Published on behalf of Oxford University Press

Published in print March 2015 | ISBN: 9780199681488
Published online May 2015 | e-ISBN: 9780191801761 | DOI:

Series: Oxford Monographs on Medical Genetics

Differential diagnosis

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  • Clinical Genetics
  • Paediatrics


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Several disorders can mimic DMD, the most usual of which is BMD presenting in early years. Disorders that could possibly be confused with Duchenne muscular dystrophy (DMD) include: Becker muscular dystrophy (BMD), several congenital muscular dystrophy (CMD), limb girdle muscular dystrophy (LGMD), mild spinal muscular atrophy (SMA type III), Pompe disease and dermatomyositis. The last two should be considered in the differential diagnosis of muscular dystrophy because they are potentially treatable.

Chapter.  5388 words.  Illustrated.

Subjects: Clinical Genetics ; Paediatrics

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