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Abnormality of muscle size

MedGen UID:
868171
Concept ID:
C4022563
Finding
HPO: HP:0030236

Definition

Abnormalities of the overall muscle bulk based on clinical observation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of muscle size

Professional guidelines

PubMed

Marsden J, Stevenson V, Jarrett L
Handb Clin Neurol 2023;196:497-521. doi: 10.1016/B978-0-323-98817-9.00010-7. PMID: 37620087
Guo S, Liu P, Feng B, Xu Y, Wang Y
Phys Sportsmed 2022 Oct;50(5):369-377. Epub 2021 Jul 19 doi: 10.1080/00913847.2021.1949253. PMID: 34176444
Reychler G, De Backer MM, Piraux E, Poncin W, Caty G
Am J Med Genet A 2021 Oct;185(10):2986-2994. Epub 2021 Jun 19 doi: 10.1002/ajmg.a.62393. PMID: 34145717

Recent clinical studies

Etiology

Jauniaux E, Jurkovic D, Hussein AM, Burton GJ
Am J Obstet Gynecol 2022 Sep;227(3):384-391. Epub 2022 Mar 3 doi: 10.1016/j.ajog.2022.02.038. PMID: 35248577
Kundu N, Kothari R, Shah N, Sandhu S, Tripathy DM, Galadari H, Gold MH, Goldman MP, Kassir M, Schepler H, Grabbe S, Goldust M
J Cosmet Dermatol 2022 May;21(5):1849-1856. Epub 2022 Feb 28 doi: 10.1111/jocd.14858. PMID: 35176198
Zrelski MM, Kustermann M, Winter L
Cells 2021 Sep 19;10(9) doi: 10.3390/cells10092480. PMID: 34572129Free PMC Article
Cavalli M, Aiolfi A, Bruni PG, Manfredini L, Lombardo F, Bonfanti MT, Bona D, Campanelli G
Hernia 2021 Aug;25(4):883-890. Epub 2021 Aug 6 doi: 10.1007/s10029-021-02468-8. PMID: 34363190Free PMC Article
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free PMC Article

Diagnosis

Gavril EC, Nucă I, Pânzaru MC, Ivanov AV, Mihai CT, Antoci LM, Ciobanu CG, Rusu C, Popescu R
Genes (Basel) 2023 Feb 11;14(2) doi: 10.3390/genes14020465. PMID: 36833393Free PMC Article
Jauniaux E, Jurkovic D, Hussein AM, Burton GJ
Am J Obstet Gynecol 2022 Sep;227(3):384-391. Epub 2022 Mar 3 doi: 10.1016/j.ajog.2022.02.038. PMID: 35248577
Kaczorowska N, Kaczorowski K, Laskowska J, Mikulewicz M
Adv Clin Exp Med 2019 Nov;28(11):1587-1592. doi: 10.17219/acem/112785. PMID: 31778604
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free PMC Article
Pant S, Kaur G, De JK
Kathmandu Univ Med J (KUMJ) 2010 Jan-Mar;8(29):83-6. doi: 10.3126/kumj.v8i1.3227. PMID: 21209513

Therapy

Kundu N, Kothari R, Shah N, Sandhu S, Tripathy DM, Galadari H, Gold MH, Goldman MP, Kassir M, Schepler H, Grabbe S, Goldust M
J Cosmet Dermatol 2022 May;21(5):1849-1856. Epub 2022 Feb 28 doi: 10.1111/jocd.14858. PMID: 35176198
Guo S, Liu P, Feng B, Xu Y, Wang Y
Phys Sportsmed 2022 Oct;50(5):369-377. Epub 2021 Jul 19 doi: 10.1080/00913847.2021.1949253. PMID: 34176444
Reychler G, De Backer MM, Piraux E, Poncin W, Caty G
Am J Med Genet A 2021 Oct;185(10):2986-2994. Epub 2021 Jun 19 doi: 10.1002/ajmg.a.62393. PMID: 34145717
Parry-Williams G, Sharma S
Nat Rev Cardiol 2020 Jul;17(7):402-412. Epub 2020 Mar 9 doi: 10.1038/s41569-020-0354-3. PMID: 32152528
Kuhn M, Türp JC
Swiss Dent J 2018 Feb 12;128(2):118-124. doi: 10.61872/sdj-2018-02-01. PMID: 29533049

Prognosis

Camilleri M, Sanders KM
Gastroenterology 2022 Jan;162(1):68-87.e1. Epub 2021 Oct 27 doi: 10.1053/j.gastro.2021.10.028. PMID: 34717924Free PMC Article
Adams AD, Stover S, Rac MW
Prenat Diagn 2021 Mar;41(4):486-496. Epub 2021 Feb 4 doi: 10.1002/pd.5886. PMID: 33540475
Kaczorowska N, Kaczorowski K, Laskowska J, Mikulewicz M
Adv Clin Exp Med 2019 Nov;28(11):1587-1592. doi: 10.17219/acem/112785. PMID: 31778604
Rubin DI
Handb Clin Neurol 2019;160:281-301. doi: 10.1016/B978-0-444-64032-1.00018-7. PMID: 31277854
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free PMC Article

Clinical prediction guides

Gavril EC, Nucă I, Pânzaru MC, Ivanov AV, Mihai CT, Antoci LM, Ciobanu CG, Rusu C, Popescu R
Genes (Basel) 2023 Feb 11;14(2) doi: 10.3390/genes14020465. PMID: 36833393Free PMC Article
Camilleri M, Sanders KM
Gastroenterology 2022 Jan;162(1):68-87.e1. Epub 2021 Oct 27 doi: 10.1053/j.gastro.2021.10.028. PMID: 34717924Free PMC Article
Wright A, Hall A, Daly T, Fontelonga T, Potter S, Schafer C, Lindsley A, Hung C, Bodamer O, Gussoni E
FASEB J 2021 Nov;35(11):e21955. doi: 10.1096/fj.202100823R. PMID: 34613626Free PMC Article
Reychler G, De Backer MM, Piraux E, Poncin W, Caty G
Am J Med Genet A 2021 Oct;185(10):2986-2994. Epub 2021 Jun 19 doi: 10.1002/ajmg.a.62393. PMID: 34145717
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG
Ann Neurol 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892Free PMC Article

Recent systematic reviews

Guo S, Liu P, Feng B, Xu Y, Wang Y
Phys Sportsmed 2022 Oct;50(5):369-377. Epub 2021 Jul 19 doi: 10.1080/00913847.2021.1949253. PMID: 34176444
Reychler G, De Backer MM, Piraux E, Poncin W, Caty G
Am J Med Genet A 2021 Oct;185(10):2986-2994. Epub 2021 Jun 19 doi: 10.1002/ajmg.a.62393. PMID: 34145717
Kaczorowska N, Kaczorowski K, Laskowska J, Mikulewicz M
Adv Clin Exp Med 2019 Nov;28(11):1587-1592. doi: 10.17219/acem/112785. PMID: 31778604
Goselink RJM, Voermans NC, Okkersen K, Brouwer OF, Padberg GW, Nikolic A, Tupler R, Dorobek M, Mah JK, van Engelen BGM, Schreuder THA, Erasmus CE
Neuromuscul Disord 2017 Dec;27(12):1077-1083. Epub 2017 Sep 21 doi: 10.1016/j.nmd.2017.09.007. PMID: 29102079
Sugimoto D, Bowen SL, Meehan WP 3rd, Stracciolini A
Res Dev Disabil 2016 Aug;55:197-206. Epub 2016 Apr 25 doi: 10.1016/j.ridd.2016.04.003. PMID: 27123540

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