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Rippling muscle disease with myasthenia gravis

MedGen UID:
1657345
•Concept ID:
C4749335
•
Disease or Syndrome
Synonyms: Acquired rippling muscle disease; Immune-mediated rippling muscle disease; immune-mediated rippling muscle disease; rippling muscle disease with myasthenia gravis; Rmd-MG
SNOMED CT: Immune-mediated rippling muscle disease (770596007); Rippling muscle disease with myasthenia gravis (770596007); Acquired rippling muscle disease (770596007)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0016100
Orphanet: ORPHA206575

Definition

A rare acquired neuromuscular disease characterized by CAV3 mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically silent muscle rippling with myalgia, in combination with generalized myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnea). [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

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
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

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
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

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
Sporadic rippling muscle disease unmasked by simvastatin.
Baker SK, Tarnopolsky MA
Muscle Nerve 2006 Oct;34(4):478-81. doi: 10.1002/mus.20575. PMID: 16688722
Immunosuppressive treatment of rippling muscles in patients with myasthenia gravis.
Müller-Felber W, Ansevin CF, Ricker K, Müller-Jenssen A, Töpfer M, Goebel HH, Pongratz DE
Neuromuscul Disord 1999 Dec;9(8):604-7. doi: 10.1016/s0960-8966(99)00065-6. PMID: 10619721

Prognosis

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

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
Identification of skeletal muscle autoantigens by expression library screening using sera from autoimmune rippling muscle disease (ARMD) patients.
Watkins TC, Zelinka LM, Kesic M, Ansevin CF, Walker GR
J Cell Biochem 2006 Sep 1;99(1):79-87. doi: 10.1002/jcb.20857. PMID: 16598745

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