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Rippling muscle disease: a review
1Department of Neurology, University Hospital, 9038 Tromsø, Norway. torberg.torbergsen@rito.no
Abstract:
Rippling muscle disease (RMD) is a benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch. After the first description in 1975, there have been several publications on this disorder. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported. The pathophysiological mechanism is still not clarified. Abnormalities in calcium homeostasis in the sarcoplasmic reticulum have been proposed as the most probable causes. However, recent genetic studies make a primary channelopathy unlikely. In this article, a review of this curious disease is presented.
Insights
Rippling muscle disease (RMD) is a rare neuromuscular disorder causing muscle hyperexcitability and electrically silent contractions. This review explores RMD
Area of Science:
- Neurology
- Muscle Physiology
Background:
- Rippling muscle disease (RMD) is a benign myopathy characterized by muscular hyperexcitability.
- Typical RMD findings include electrically silent muscle contractions triggered by mechanical stimuli and stretch.
- While often autosomal dominant, RMD can present sporadically and has been associated with other conditions like myasthenia gravis.
Purpose of the Study:
- To provide a comprehensive review of Rippling Muscle Disease (RMD).
- To discuss the clinical presentation, inheritance patterns, and proposed pathophysiological mechanisms of RMD.
Main Methods:
- Literature review of published cases and studies on Rippling Muscle Disease.
- Synthesis of information regarding clinical features, genetics, and proposed etiologies.
Main Results:
- RMD presents with characteristic muscle hyperexcitability and unique contraction patterns.
- Autosomal dominant inheritance is common, but sporadic cases exist.
- Pathophysiology remains unclear, with sarcoplasmic reticulum calcium homeostasis abnormalities proposed, though primary channelopathy is less likely based on recent genetics.
Conclusions:
- Rippling Muscle Disease is a distinct neuromuscular disorder with ongoing research into its underlying mechanisms.
- Further investigation is needed to fully elucidate the pathophysiology of RMD.
- Understanding RMD is crucial for accurate diagnosis and management of patients with muscular hyperexcitability.