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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.
EMG abnormality
MedGen UID:
99199
Concept ID:
C0476403
Finding
Abnormal results of investigations using electromyography (EMG).
Muscle hyperirritability
MedGen UID:
340036
Concept ID:
C1853701
Finding
Muscle mounding
MedGen UID:
340037
Concept ID:
C1853702
Finding
Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds.
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.
Exercise-induced muscle stiffness
MedGen UID:
343388
Concept ID:
C1855579
Finding
A type of muscle stiffness that occurs following physical exertion.
Skeletal muscle hypertrophy
MedGen UID:
853739
Concept ID:
C2265792
Finding
Abnormal increase in muscle size and mass not due to training.
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.

Recent clinical studies

Etiology

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
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
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
Yerima A, Hassan UU, Faruk HU, Adelowo O
West Afr J Med 2022 Sep 16;39(9):902-908. PMID: 36125425
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

Diagnosis

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
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
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
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
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

Melis MR, El Aoufy K, Bambi S, Bruni C, Guiducci S, Bellando-Randone S, Matucci-Cerinic M, Rasero L
Clin Rheumatol 2023 Jun;42(6):1521-1535. Epub 2023 Feb 18 doi: 10.1007/s10067-023-06520-z. PMID: 36801986
Yerima A, Hassan UU, Faruk HU, Adelowo O
West Afr J Med 2022 Sep 16;39(9):902-908. PMID: 36125425
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
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
Liewluck T, Goodman BP, Milone M
Neurologist 2012 May;18(3):155-8. doi: 10.1097/NRL.0b013e318251e70f. PMID: 22549359

Prognosis

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
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
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
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
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

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
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
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
Yerima A, Hassan UU, Faruk HU, Adelowo O
West Afr J Med 2022 Sep 16;39(9):902-908. PMID: 36125425
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

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
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
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
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
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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