Rippling muscle disease: A review

Torbergsen, T.

doi:10.1002/mus.10156

Cited by 59 publications

(53 citation statements)

References 25 publications

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“…Rippling muscle disease (RMD) is a relatively benign myopathy, first described in 1975, characterized by stretch-induced muscle contractions which spread to neighboring muscle fibers and give the appearance of ripples moving over the muscle (261,284). Generally showing an autosomal dominant pattern of inheritance, RMD was originally thought to be caused by alterations in sarcoplasmic reticulum calcium homeostasis (261).…”

Section: Pathogenesis Of Muscular Dystrophymentioning

confidence: 99%

Role of Caveolae and Caveolins in Health and Disease

Cohen

Hnasko²,

Schubert³

et al. 2004

Physiological Reviews

797

791

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Although they were discovered more than 50 years ago, caveolae have remained enigmatic plasmalemmal organelles. With their characteristic “flasklike” shape and virtually ubiquitous tissue distribution, these interesting structures have been implicated in a wide range of cellular functions. Similar to clathrin-coated pits, caveolae function as macromolecular vesicular transporters, while their unique lipid composition classifies them as plasma membrane lipid rafts, structures enriched in a variety of signaling molecules. The caveolin proteins (caveolin-1, -2, and -3) serve as the structural components of caveolae, while also functioning as scaffolding proteins, capable of recruiting numerous signaling molecules to caveolae, as well as regulating their activity. That so many signaling molecules and signaling cascades are regulated by an interaction with the caveolins provides a paradigm by which numerous disease processes may be affected by ablation or mutation of these proteins. Indeed, studies in caveolin-deficient mice have implicated these structures in a host of human diseases, including diabetes, cancer, cardiovascular disease, atherosclerosis, pulmonary fibrosis, and a variety of degenerative muscular dystrophies. In this review, we provide an in depth summary regarding the mechanisms by which caveolae and caveolins participate in human disease processes.

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Section: Pathogenesis Of Muscular Dystrophymentioning

confidence: 99%

Role of Caveolae and Caveolins in Health and Disease

Cohen

Hnasko²,

Schubert³

et al. 2004

Physiological Reviews

797

791

View full text Add to dashboard Cite

show abstract

“…His father is still living, and his only symptoms are soreness with strenuous exercise, chest atrophy, and symptoms consistent with rippling muscle disease (involuntary rolling contractions of muscles provoked by mechanical stimuli such as percussion and stretching the muscle). 3 He has not undergone any further testing since the patient's diagnosis.…”

Section: Case Presentationmentioning

confidence: 99%

Elevated Liver Enzymes Indicating a Diagnosis of Limb-Girdle Muscular Dystrophy

Lash

Kraemer

2014

J GEN INTERN MED

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“…Ingrid Goebel, 1 and Heymut Omran, MD 2 We recently reported two unrelated patients with an unusually severe form of rippling muscle disease (RMD), 1 a rare myopathy characterized by signs of an increased muscle irritability. 2 In nearly all known cases, RMD is inherited as an autosomal dominant trait caused by heterozygous missense mutations in the caveolin-3 gene (CAV3).…”

mentioning

confidence: 99%

“…2 In nearly all known cases, RMD is inherited as an autosomal dominant trait caused by heterozygous missense mutations in the caveolin-3 gene (CAV3).…”

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Scalabrino¹,

Carpo²,

Bamonti

et al. 2005

Annals of Neurology

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We recently reported two unrelated patients with an unusually severe form of rippling muscle disease (RMD), 1 a rare myopathy characterized by signs of an increased muscle irritability. 2 In nearly all known cases, RMD is inherited as an autosomal dominant trait caused by heterozygous missense mutations in the caveolin-3 gene (CAV3).3 Both patients showed apparently homozygous CAV3 missense mutations (L86P and A92T), which might argue for the existence of an autosomal recessive form of RMD caused by CAV3 mutations. Unfortunately, in both cases we could not perform clinical or genetic studies in additional family members. We therefore could not exclude that heterozygous carriers of these mutations show signs of RMD, such as the typical rippling phenomenon, muscle mounding, percussion/pressureinduced rapid muscle contractions (PIRCs), or an increase in serum creatine kinase (CK). 4 In the case of such symptoms, the mutations had to be regarded as "normal" autosomal dominant RMD mutations causing a more severe phenotype in homozygotes, whereas an autosomal recessive form of RMD with CAV3 mutations would require the absence of symptoms in carriers.We were now able to extend our knowledge about one of these mutations (ie, A92T) and to substantiate the existence of autosomal recessive RMD with CAV3 mutations. We identified a novel family of German ancestry, with two children affected by RMD. The 7-year-old son (II-2, Fig) complained of nocturnal myalgia of the legs. Psychomotor development was normal. Muscle strength was discretely reduced in the arms; strength in other muscles was normal. PIRCs could be provoked on skeletal muscles of the upper and lower extremities. Increased CK values were repeatedly found (up to 1,050U/L; normal, Ͻ217U/L). Electrocardiogram was normal and echocardiography showed a minimal insufficiency of the mitral and tricuspidal valves without clinical significance. A diagnostic muscle biopsy did not show any signs of muscular dystrophy or myopathy. Immunohistochemistry showed absence of plasmalemmal Cav3 staining (data not shown). The patient's 13-year-old sister (II-1, see Fig) also reported nocturnal myalgia of the legs. Similar to her brother, PIRCs could be provoked on skeletal muscles of the upper and lower extremities. Otherwise, physical examination was normal. The CK value was elevated up to 528U/L (normal, Ͻ217U/L). Electrocardiogram and echocardiography were normal. In both children, there was no growth retardation or arrhythmogenic cardiomyopathy as has been reported in one small family with a syndromic form of RMD with autosomal recessive inheritance and unknown CAV3 mutational status.5 Both parents are healthy. Physical examination showed no signs of muscle rippling, mounding, or PIRCs. CK values were repeatedly normal in the 40-year-old father (up to 74U/L; normal, Ͻ140U/L). In the 38-year-old mother, there was a borderline high CK value (157U/L; normal, Ͻ140U/L) once. A control measurement (110U/L) was normal. Two older siblings of the patients are healthy and show normal

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Rippling muscle disease: A review

Cited by 59 publications

References 25 publications

Role of Caveolae and Caveolins in Health and Disease

Role of Caveolae and Caveolins in Health and Disease

Elevated Liver Enzymes Indicating a Diagnosis of Limb-Girdle Muscular Dystrophy

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