Rippling muscle disease

Roberts, Helene; Day, Bruce; Lo, Harriet P.; McLean, Catriona; North, Klaus

doi:10.1016/j.jocn.2005.06.015

Cited by 3 publications

(2 citation statements)

References 15 publications

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“…The electrical activities during muscle rippling, PIRCs, or muscle mounding in the genetic form of RMD remain controversial. Although there have been several reports indicating electrical silence during involuntary muscle contractions,3, 10–14 two reports have demonstrated electrical activity during PIRCs and/or muscle rippling recorded by needle EMG in cases of genetic RMD 1, 7. In one of these studies, Vorgerd et al7 presented “rapid bursts of fiber potentials” elicited by slight translocation of the needle electrode within the muscle or mild tapping close to the point of needle insertion, consistent with our findings.…”

Section: Discussionsupporting

confidence: 89%

Rippling is not always electrically silent in rippling muscle disease

et al. 2011

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Rippling muscle disease (RMD) is a myopathy with hyperirritability, the pathophysiology for which is uncertain.We report electromyographic findings in a 30-year-old man with RMD. Clinical features included muscle rippling and percussion-induced rapid muscle contractions. Both were associated with bursts of short-duration, low-amplitude spikes, which resembled single muscle fiber discharges. Our case stands in contrast to previously reported cases, which showed either electrical silence or motor unit potential discharges associated with rippling, and may represent muscle fiber hyperexcitability.

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Section: Discussionsupporting

confidence: 89%

Rippling is not always electrically silent in rippling muscle disease

et al. 2011

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“…Early recognition of RMD is possible due to its remarkable clinical features, and of importance because it prevents the patient from unnecessary investigations and enables rational treatment choices. Dantrolene and calcium channel antagonists are reported to have positive effects on muscle hyperexcitability in RMD, but in practice this treatment has not led to signifi cant improvement in many patients [5,11] . The pathophysiological mechanism underlying the hyperexcitable symptoms of RMD has not been elucidated.…”

Section: Discussionmentioning

confidence: 99%

Thought Ripples on Muscle Waves: Recognition of Rippling Muscle Disease

Voermans

Alfen²,

Drost

et al. 2008

Neuropediatrics

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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.

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