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DOI: 10.1055/s-2008-1081466
© Georg Thieme Verlag KG Stuttgart · New York
Thought Ripples on Muscle Waves: Recognition of Rippling Muscle Disease
Publication History
received 07.12.2007
accepted after revision 26.04.2008
Publication Date:
31 July 2008 (online)
![](https://www.thieme-connect.de/media/neuropediatrics/200802/lookinside/thumbnails/10.1055-s-2008-1081466-1.jpg)
Abstract
We report on a 16-year-old Dutch patient in whom rippling muscle disease (RMD) was diagnosed years after his mother had been falsely diagnosed with acid maltase deficiency. The autosomal dominant mode of inheritance of the neuromuscular symptoms in this family had led to a re-evaluation of the diagnosis of acid maltase deficiency. Physical examination revealed the three key features leading to the clinical diagnosis of RMD: rippling, mounding, and percussion-induced rapid muscle contraction. Mutation analysis revealed a novel heterozygous missense mutation in the caveolin-3 gene (c.79C > G; p.Arg27Gly) in both the index patient and his mother. This case report stresses the importance of adhering to the mode of inheritance in the diagnosis of neuromuscular disorders. It also indicates that typical RMD phenomena are not easily acknowledged among paediatricians or neurologists. We therefore present an overview of these clinical characteristics of rippling muscle disease RMD.
Key words
rippling muscle disease - caveolin-3 - rippling - mounding - percussion induced-rapid contraction
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Correspondence
N. C. VoermansMD
Neuromuscular Centre Nijmegen
Department of Neurology, 935
Radboud University Nijmegen Medical Centre
P.O. Box 9101
6500 HB Nijmegen
The Netherlands
Phone: +31/24/361 52 02
Fax: +31/24/354 11 22
Email: n.voermans@neuro.umcn.nl