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Rippling muscle disease(RMD2)

MedGen UID:
342944
•Concept ID:
C1853698
•
Disease or Syndrome
Synonym: RMD2
SNOMED CT: Rippling muscle disease (709281006); Rippling muscle syndrome (709281006)
 
Related gene: CAV3
 
Monarch Initiative: MONDO:0011634
OMIM®: 606072

Definition

A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch [from MONDO]

Professional guidelines

PubMed

Immunofluorescence-Based Analysis of Caveolin-3 in the Diagnostic Management of Neuromuscular Diseases.
Roos A, Hathazi D, Schara U
Methods Mol Biol 2020;2169:197-216. doi: 10.1007/978-1-0716-0732-9_18. PMID: 32548831

Recent clinical studies

Etiology

Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.
Berling E, Verebi C, Venturelli N, Vassilopoulos S, Béhin A, Tard C, Michaud M, Quiles RNV, Vicart S, Masingue M, Carlier RY, Romero NB, Lacene E, Leturcq F, Eymard B, Laforêt P, Stojkovic T
Eur J Neurol 2023 Aug;30(8):2506-2517. Epub 2023 May 25 doi: 10.1111/ene.15832. PMID: 37166430
Association between type I interferon pathway activation and clinical outcomes in rheumatic and musculoskeletal diseases: a systematic literature review informing EULAR points to consider.
Rodríguez-Carrio J, Burska A, Conaghan PG, Dik WA, Biesen R, Eloranta ML, Cavalli G, Visser M, Boumpas DT, Bertsias G, Wahren-Herlenius M, Rehwinkel J, Frémond ML, Crow MK, Ronnblom L, Vital E, Versnel M
RMD Open 2023 Mar;9(1) doi: 10.1136/rmdopen-2022-002864. PMID: 36882218Free PMC Article
2021 EULAR recommendations regarding lifestyle behaviours and work participation to prevent progression of rheumatic and musculoskeletal diseases.
Gwinnutt JM, Wieczorek M, Balanescu A, Bischoff-Ferrari HA, Boonen A, Cavalli G, de Souza S, de Thurah A, Dorner TE, Moe RH, Putrik P, Rodríguez-Carrio J, Silva-Fernández L, Stamm T, Walker-Bone K, Welling J, Zlatković-Švenda MI, Guillemin F, Verstappen SMM
Ann Rheum Dis 2023 Jan;82(1):48-56. Epub 2022 Mar 8 doi: 10.1136/annrheumdis-2021-222020. PMID: 35260387
Identification of Caveolae-Associated Protein 4 Autoantibodies as a Biomarker of Immune-Mediated Rippling Muscle Disease in Adults.
Dubey D, Beecher G, Hammami MB, Knight AM, Liewluck T, Triplett J, Datta A, Dasari S, Zhang Y, Roforth MM, Jerde CR, Murphy SJ, Litchy WJ, Amato A, Lennon VA, McKeon A, Mills JR, Pittock SJ, Milone M
JAMA Neurol 2022 Aug 1;79(8):808-816. doi: 10.1001/jamaneurol.2022.1357. PMID: 35696196Free PMC Article
SARS-CoV-2 Infection and COVID-19 Outcomes in Rheumatic Diseases: A Systematic Literature Review and Meta-Analysis.
Conway R, Grimshaw AA, Konig MF, Putman M, Duarte-García A, Tseng LY, Cabrera DM, Chock YPE, Degirmenci HB, Duff E, Egeli BH, Graef ER, Gupta A, Harkins P, Hoyer BF, Jayatilleke A, Jin S, Kasia C, Khilnani A, Kilian A, Kim AHJ, Lin CMA, Low C, Proulx L, Sattui SE, Singh N, Sparks JA, Tam H, Ugarte-Gil MF, Ung N, Wang K, Wise LM, Yang Z, Young KJ, Liew JW, Grainger R, Wallace ZS, Hsieh E; COVID-19 Global Rheumatology Alliance
Arthritis Rheumatol 2022 May;74(5):766-775. Epub 2022 Mar 28 doi: 10.1002/art.42030. PMID: 34807517Free PMC Article

Diagnosis

Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies.
Svahn J, Coudert L, Streichenberger N, Kraut A, Gravier-Dumonceau-Mazelier A, Rotard L, Calemard-Michel L, Menassa R, Errazuriz-Cerda E, Chalabreysse L, Osseni A, Vial C, Jomir L, Tronc F, Le Duy D, Bernard E, Gache V, Couté Y, Jacquemond V, Schaeffer L, Leblanc P
Neurol Neuroimmunol Neuroinflamm 2023 Jan;10(1) Epub 2022 Dec 15 doi: 10.1212/NXI.0000000000200068. PMID: 36522170Free PMC Article
Identification of Caveolae-Associated Protein 4 Autoantibodies as a Biomarker of Immune-Mediated Rippling Muscle Disease in Adults.
Dubey D, Beecher G, Hammami MB, Knight AM, Liewluck T, Triplett J, Datta A, Dasari S, Zhang Y, Roforth MM, Jerde CR, Murphy SJ, Litchy WJ, Amato A, Lennon VA, McKeon A, Mills JR, Pittock SJ, Milone M
JAMA Neurol 2022 Aug 1;79(8):808-816. doi: 10.1001/jamaneurol.2022.1357. PMID: 35696196Free PMC Article
Rippling Muscle Disease with Irregular Toe Jerks and Anti-acetylcholine Receptor Antibodies: Remission after Extended Thymectomy.
Yamaguchi N, Matsuda S, Matsumoto J, Ugawa Y, Shimizu J, Toda T, Sonoo M, Yoshizawa T
Intern Med 2022 May 1;61(9):1439-1442. Epub 2021 Oct 19 doi: 10.2169/internalmedicine.8146-21. PMID: 34670892Free PMC Article
Neuromuscular hyperexcitability syndromes.
De Wel B, Claeys KG
Curr Opin Neurol 2021 Oct 1;34(5):714-720. doi: 10.1097/WCO.0000000000000963. PMID: 34914668
Caveolinopathies in Greece.
Papadopoulos C, Papadimas GK, Kekou K, Spengos K, Svigou M, Kitsiou-Tzeli S, Manta P
Neurologist 2015 Jul;20(1):8-12. doi: 10.1097/NRL.0000000000000036. PMID: 26185955

Therapy

Trends in consultations and prescribing for rheumatic and musculoskeletal diseases: an electronic primary care records study.
Welsh VK, Mason KJ, Bailey J, Bajpai R, Jordan KP, Mallen CD, Burton C
Br J Gen Pract 2023 Nov;73(736):e858-e866. Epub 2023 Oct 26 doi: 10.3399/BJGP.2022.0648. PMID: 37722859Free PMC Article
Frequency and Pattern of Rheumatoid Arthritis in a Tertiary Hospital in Maiduguri, North-Eastern Nigeria.
Yerima A, Hassan UU, Faruk HU, Adelowo O
West Afr J Med 2022 Sep 16;39(9):902-908. PMID: 36125425
SARS-CoV-2 Infection and COVID-19 Outcomes in Rheumatic Diseases: A Systematic Literature Review and Meta-Analysis.
Conway R, Grimshaw AA, Konig MF, Putman M, Duarte-García A, Tseng LY, Cabrera DM, Chock YPE, Degirmenci HB, Duff E, Egeli BH, Graef ER, Gupta A, Harkins P, Hoyer BF, Jayatilleke A, Jin S, Kasia C, Khilnani A, Kilian A, Kim AHJ, Lin CMA, Low C, Proulx L, Sattui SE, Singh N, Sparks JA, Tam H, Ugarte-Gil MF, Ung N, Wang K, Wise LM, Yang Z, Young KJ, Liew JW, Grainger R, Wallace ZS, Hsieh E; COVID-19 Global Rheumatology Alliance
Arthritis Rheumatol 2022 May;74(5):766-775. Epub 2022 Mar 28 doi: 10.1002/art.42030. PMID: 34807517Free PMC Article
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease.
Sundblom J, Melberg A, Rücker F, Smits A, Islander G
J Anesth 2013 Feb;27(1):128-31. Epub 2012 Sep 14 doi: 10.1007/s00540-012-1482-7. PMID: 22976939
Electrically active immune-mediated rippling muscle disease preceding breast cancer.
Liewluck T, Goodman BP, Milone M
Neurologist 2012 May;18(3):155-8. doi: 10.1097/NRL.0b013e318251e70f. PMID: 22549359

Prognosis

Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.
Berling E, Verebi C, Venturelli N, Vassilopoulos S, Béhin A, Tard C, Michaud M, Quiles RNV, Vicart S, Masingue M, Carlier RY, Romero NB, Lacene E, Leturcq F, Eymard B, Laforêt P, Stojkovic T
Eur J Neurol 2023 Aug;30(8):2506-2517. Epub 2023 May 25 doi: 10.1111/ene.15832. PMID: 37166430
Association between type I interferon pathway activation and clinical outcomes in rheumatic and musculoskeletal diseases: a systematic literature review informing EULAR points to consider.
Rodríguez-Carrio J, Burska A, Conaghan PG, Dik WA, Biesen R, Eloranta ML, Cavalli G, Visser M, Boumpas DT, Bertsias G, Wahren-Herlenius M, Rehwinkel J, Frémond ML, Crow MK, Ronnblom L, Vital E, Versnel M
RMD Open 2023 Mar;9(1) doi: 10.1136/rmdopen-2022-002864. PMID: 36882218Free PMC Article
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease.
Sundblom J, Melberg A, Rücker F, Smits A, Islander G
J Anesth 2013 Feb;27(1):128-31. Epub 2012 Sep 14 doi: 10.1007/s00540-012-1482-7. PMID: 22976939
Characterization of the in vitro expressed autoimmune rippling muscle disease immunogenic domain of human titin encoded by TTN exons 248-249.
Zelinka L, McCann S, Budde J, Sethi S, Guidos M, Giles R, Walker GR
Biochem Biophys Res Commun 2011 Aug 5;411(3):501-5. Epub 2011 Jun 29 doi: 10.1016/j.bbrc.2011.06.139. PMID: 21741357
Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two.
Schoser B, Jacob S, Hilton-Jones D, Müller-Felber W, Kubisch C, Claus D, Goebel HH, Vita G, Vincent A, Toscano A, Van den Bergh P
Neuromuscul Disord 2009 Mar;19(3):223-8. Epub 2009 Feb 8 doi: 10.1016/j.nmd.2009.01.002. PMID: 19208478

Clinical prediction guides

Association between type I interferon pathway activation and clinical outcomes in rheumatic and musculoskeletal diseases: a systematic literature review informing EULAR points to consider.
Rodríguez-Carrio J, Burska A, Conaghan PG, Dik WA, Biesen R, Eloranta ML, Cavalli G, Visser M, Boumpas DT, Bertsias G, Wahren-Herlenius M, Rehwinkel J, Frémond ML, Crow MK, Ronnblom L, Vital E, Versnel M
RMD Open 2023 Mar;9(1) doi: 10.1136/rmdopen-2022-002864. PMID: 36882218Free PMC Article
Frequency and Pattern of Rheumatoid Arthritis in a Tertiary Hospital in Maiduguri, North-Eastern Nigeria.
Yerima A, Hassan UU, Faruk HU, Adelowo O
West Afr J Med 2022 Sep 16;39(9):902-908. PMID: 36125425
SARS-CoV-2 Infection and COVID-19 Outcomes in Rheumatic Diseases: A Systematic Literature Review and Meta-Analysis.
Conway R, Grimshaw AA, Konig MF, Putman M, Duarte-García A, Tseng LY, Cabrera DM, Chock YPE, Degirmenci HB, Duff E, Egeli BH, Graef ER, Gupta A, Harkins P, Hoyer BF, Jayatilleke A, Jin S, Kasia C, Khilnani A, Kilian A, Kim AHJ, Lin CMA, Low C, Proulx L, Sattui SE, Singh N, Sparks JA, Tam H, Ugarte-Gil MF, Ung N, Wang K, Wise LM, Yang Z, Young KJ, Liew JW, Grainger R, Wallace ZS, Hsieh E; COVID-19 Global Rheumatology Alliance
Arthritis Rheumatol 2022 May;74(5):766-775. Epub 2022 Mar 28 doi: 10.1002/art.42030. PMID: 34807517Free PMC Article
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease.
Sundblom J, Melberg A, Rücker F, Smits A, Islander G
J Anesth 2013 Feb;27(1):128-31. Epub 2012 Sep 14 doi: 10.1007/s00540-012-1482-7. PMID: 22976939
Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers.
Lamb GD
Muscle Nerve 2005 May;31(5):652-8. doi: 10.1002/mus.20307. PMID: 15742369

Recent systematic reviews

Living with foot and ankle disorders in rheumatic and musculoskeletal diseases: A systematic review of qualitative studies to inform the work of the OMERACT Foot and Ankle Working Group.
Chapman LS, Flurey CA, Redmond AC, Richards P, Hofstetter C, Tapster B, Emmel J, Helliwell PS, Menz HB, Hannan MT, Shea B, Siddle HJ
Semin Arthritis Rheum 2023 Aug;61:152212. Epub 2023 May 11 doi: 10.1016/j.semarthrit.2023.152212. PMID: 37207417
Association between type I interferon pathway activation and clinical outcomes in rheumatic and musculoskeletal diseases: a systematic literature review informing EULAR points to consider.
Rodríguez-Carrio J, Burska A, Conaghan PG, Dik WA, Biesen R, Eloranta ML, Cavalli G, Visser M, Boumpas DT, Bertsias G, Wahren-Herlenius M, Rehwinkel J, Frémond ML, Crow MK, Ronnblom L, Vital E, Versnel M
RMD Open 2023 Mar;9(1) doi: 10.1136/rmdopen-2022-002864. PMID: 36882218Free PMC Article
A Mixed-Methods Systematic Review on Syndemics in Rheumatology.
Ramírez-Flores MF, Cadena-Trejo C, Motte-García E, Juárez-Cruz ID, Fernandez-García MV, Gastelum-Strozzi A, Alpizar-Rodriguez D, Hernandez-Garduño A, Peláez-Ballestas I
J Clin Rheumatol 2023 Apr 1;29(3):113-117. Epub 2022 Oct 27 doi: 10.1097/RHU.0000000000001915. PMID: 36326708
Effects of diet on the outcomes of rheumatic and musculoskeletal diseases (RMDs): systematic review and meta-analyses informing the 2021 EULAR recommendations for lifestyle improvements in people with RMDs.
Gwinnutt JM, Wieczorek M, Rodríguez-Carrio J, Balanescu A, Bischoff-Ferrari HA, Boonen A, Cavalli G, de Souza S, de Thurah A, Dorner TE, Moe RH, Putrik P, Silva-Fernández L, Stamm T, Walker-Bone K, Welling J, Zlatković-Švenda M, Guillemin F, Verstappen SMM
RMD Open 2022 Jun;8(2) doi: 10.1136/rmdopen-2021-002167. PMID: 35654458Free PMC Article
SARS-CoV-2 Infection and COVID-19 Outcomes in Rheumatic Diseases: A Systematic Literature Review and Meta-Analysis.
Conway R, Grimshaw AA, Konig MF, Putman M, Duarte-García A, Tseng LY, Cabrera DM, Chock YPE, Degirmenci HB, Duff E, Egeli BH, Graef ER, Gupta A, Harkins P, Hoyer BF, Jayatilleke A, Jin S, Kasia C, Khilnani A, Kilian A, Kim AHJ, Lin CMA, Low C, Proulx L, Sattui SE, Singh N, Sparks JA, Tam H, Ugarte-Gil MF, Ung N, Wang K, Wise LM, Yang Z, Young KJ, Liew JW, Grainger R, Wallace ZS, Hsieh E; COVID-19 Global Rheumatology Alliance
Arthritis Rheumatol 2022 May;74(5):766-775. Epub 2022 Mar 28 doi: 10.1002/art.42030. PMID: 34807517Free PMC Article

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