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Rippling muscle disease 1(RMD1)

MedGen UID:
324987
•Concept ID:
C1838254
•
Disease or Syndrome
Synonyms: Rippling Muscle Disease 1; Rippling muscle disease, 1
 
Monarch Initiative: MONDO:0010868
OMIM®: 600332

Clinical features

From HPO
Exercise-induced myalgia
MedGen UID:
340638
•Concept ID:
C1850830
•
Sign or Symptom
The occurrence of an unusually high amount of muscle pain following exercise.
See: Feature record | Search on this feature
EMG abnormality
MedGen UID:
99199
•Concept ID:
C0476403
•
Finding
Abnormal results of investigations using electromyography (EMG).
See: Feature record | Search on this feature
Muscle hyperirritability
MedGen UID:
340036
•Concept ID:
C1853701
•
Finding
See: Feature record | Search on this feature
Muscle mounding
MedGen UID:
340037
•Concept ID:
C1853702
•
Finding
Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds.
See: Feature record | Search on this feature
Exercise-induced muscle cramps
MedGen UID:
383715
•Concept ID:
C1855578
•
Finding
Sudden and involuntary contractions of one or more muscles brought on by physical exertion.
See: Feature record | Search on this feature
Exercise-induced muscle stiffness
MedGen UID:
343388
•Concept ID:
C1855579
•
Finding
A type of muscle stiffness that occurs following physical exertion.
See: Feature record | Search on this feature
Skeletal muscle hypertrophy
MedGen UID:
853739
•Concept ID:
C2265792
•
Finding
Abnormal increase in muscle size and mass not due to training.
See: Feature record | Search on this feature
Percussion-induced rapid rolling muscle contractions
MedGen UID:
902498
•Concept ID:
C4280804
•
Finding
Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Multimorbidity in rheumatoid arthritis: common mechanistic links and impact and challenges in routine clinical practice.
Surandran S, Ahmed S, Walton T, Nikiphorou E, Dey M
Rheumatology (Oxford) 2023 Oct 23;62(SI3):SI260-SI270. doi: 10.1093/rheumatology/kead489. PMID: 37871920
Developing a core outcome set for foot and ankle disorders in rheumatic and musculoskeletal diseases: A scoping review and report from the OMERACT 2022 foot and ankle special interest group session.
Chapman LS, Jones J, Redmond AC, Flurey CA, Richards P, Hofstetter C, Smith TO, Arnold JB, Hannan MT, Maxwell LJ, Menz HB, Shea B, Golightly YM, Tugwell P, Beaton D, Conaghan PG, Helliwell PS, Siddle HJ
Semin Arthritis Rheum 2023 Aug;61:152210. Epub 2023 May 4 doi: 10.1016/j.semarthrit.2023.152210. PMID: 37156170
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

Barriers and facilitators for physical activity in rheumatic and musculoskeletal disease: a European-based survey.
Metsios GS, Fenton SAM, Tzika K, Moe RH, Fragoulis GE, Vlieland TPMV, Nikiphorou E, Van den Ende CHM, Fatouros I, van der Esch M, Niedermann K, Stavropoulos-Kalinoglou A, van Zanten JJCSV, Brodin N, O'Brien CM, Koutedakis Y, Kennedy N, Swinnen TW, Bostrom C, Kitas GD; IMPACT-RMD Consortium
Clin Rheumatol 2023 Jul;42(7):1897-1902. Epub 2023 Mar 6 doi: 10.1007/s10067-023-06518-7. PMID: 36877304
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
Immune-mediated rippling muscle disease and myasthenia gravis.
Bettini M, Gonorazky H, Chaves M, Fulgenzi E, Figueredo A, Christiansen S, Cristiano E, Bertini ES, Rugiero M
J Neuroimmunol 2016 Oct 15;299:59-61. Epub 2016 Aug 12 doi: 10.1016/j.jneuroim.2016.08.011. PMID: 27725122

Therapy

Trends for opioid prescribing and the impact of the COVID-19 pandemic in patients with rheumatic and musculoskeletal diseases between 2006 and 2021.
Huang YT, Jenkins DA, Yimer BB, Benitez-Aurioles J, Peek N, Lunt M, Dixon WG, Jani M
Rheumatology (Oxford) 2024 Apr 2;63(4):1093-1103. doi: 10.1093/rheumatology/kead346. PMID: 37432340Free PMC Article
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

Prognosis

Drug persistence in patients with rheumatic and musculoskeletal diseases during a major economic crisis: results from a nationwide cross-sectional online survey.
Asmar S, Messaykeh J, Hilal N, Rida MA, Mroue K, Aouad K, Minkara F, Hajjar A, Ziade N
Rheumatol Int 2024 Apr;44(4):725-736. Epub 2024 Jan 31 doi: 10.1007/s00296-023-05526-9. PMID: 38296847
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
2022 EULAR points to consider for the measurement, reporting and application of IFN-I pathway activation assays in clinical research and practice.
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, Rönnblom L, Versnel MA, Vital EM
Ann Rheum Dis 2023 Jun;82(6):754-762. Epub 2023 Mar 1 doi: 10.1136/ard-2022-223628. PMID: 36858821
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

Clinical prediction guides

Developing a core outcome set for foot and ankle disorders in rheumatic and musculoskeletal diseases: A scoping review and report from the OMERACT 2022 foot and ankle special interest group session.
Chapman LS, Jones J, Redmond AC, Flurey CA, Richards P, Hofstetter C, Smith TO, Arnold JB, Hannan MT, Maxwell LJ, Menz HB, Shea B, Golightly YM, Tugwell P, Beaton D, Conaghan PG, Helliwell PS, Siddle HJ
Semin Arthritis Rheum 2023 Aug;61:152210. Epub 2023 May 4 doi: 10.1016/j.semarthrit.2023.152210. PMID: 37156170
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
2022 EULAR points to consider for the measurement, reporting and application of IFN-I pathway activation assays in clinical research and practice.
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, Rönnblom L, Versnel MA, Vital EM
Ann Rheum Dis 2023 Jun;82(6):754-762. Epub 2023 Mar 1 doi: 10.1136/ard-2022-223628. PMID: 36858821
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

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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