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Muscle hypertrophy of the lower extremities

MedGen UID:
376851
Concept ID:
C1850663
Finding
HPO: HP:0008968

Definition

Muscle hypertrophy primarily affecting the legs. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMuscle hypertrophy of the lower extremities

Conditions with this feature

Congenital myotonia, autosomal recessive form
MedGen UID:
155852
Concept ID:
C0751360
Disease or Syndrome
Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the "warm-up" phenomenon). Muscles are usually hypertrophic. Whereas autosomal recessive (AR) myotonia congenita is often associated with more severe manifestations (such as progressive minor distal weakness and attacks of transient weakness brought on by movement after rest), autosomal dominant (AD) myotonia congenita is not. The age of onset varies: in AD myotonia congenita onset is usually in infancy or early childhood; in AR myotonia congenita the average age of onset is slightly older. In both AR and AD myotonia congenita onset may be as late as the third or fourth decade of life.

Professional guidelines

PubMed

Rodriguez-Merchan EC
Cardiovasc Hematol Disord Drug Targets 2021;21(3):162-166. doi: 10.2174/1871529X21666210427134232. PMID: 33906595
Shi W, Zhu L, Wang T, Zhang G, Lian J
Aesthetic Plast Surg 2019 Dec;43(6):1588-1594. Epub 2019 Sep 25 doi: 10.1007/s00266-019-01455-w. PMID: 31555873
Sinatra ST
Altern Ther Health Med 2009 May-Jun;15(3):44-52. PMID: 19472864

Recent clinical studies

Etiology

Huang C, Chen LY, Liao YH, Masodsai K, Lin YY
Int J Environ Res Public Health 2022 Sep 22;19(19) doi: 10.3390/ijerph191911994. PMID: 36231295Free PMC Article
Plotkin D, Coleman M, Van Every D, Maldonado J, Oberlin D, Israetel M, Feather J, Alto A, Vigotsky AD, Schoenfeld BJ
PeerJ 2022;10:e14142. Epub 2022 Sep 30 doi: 10.7717/peerj.14142. PMID: 36199287Free PMC Article
Schoenfeld BJ, Contreras B, Krieger J, Grgic J, Delcastillo K, Belliard R, Alto A
Med Sci Sports Exerc 2019 Jan;51(1):94-103. doi: 10.1249/MSS.0000000000001764. PMID: 30153194Free PMC Article
Schoenfeld BJ, Pope ZK, Benik FM, Hester GM, Sellers J, Nooner JL, Schnaiter JA, Bond-Williams KE, Carter AS, Ross CL, Just BL, Henselmans M, Krieger JW
J Strength Cond Res 2016 Jul;30(7):1805-12. doi: 10.1519/JSC.0000000000001272. PMID: 26605807
Ozaki H, Loenneke JP, Thiebaud RS, Abe T
Acta Physiol Hung 2015 Mar;102(1):1-22. doi: 10.1556/APhysiol.102.2015.1.1. PMID: 25804386

Diagnosis

Pumar Pérez M, Marsico S, Rodríguez Baeza A, Solano López A
Radiologia (Engl Ed) 2022 Jul-Aug;64(4):368-374. doi: 10.1016/j.rxeng.2021.06.006. PMID: 36030083
Hamilton MJ, Suri M
Adv Genet 2020;105:137-174. Epub 2020 May 26 doi: 10.1016/bs.adgen.2020.03.002. PMID: 32560786
Zurita Prada PA, Faré García R, Urrego Laurín CL, Pérez Toledo R, Tabernero García C, Hernández Laín A
Reumatol Clin 2017 May-Jun;13(3):173-175. Epub 2016 Apr 18 doi: 10.1016/j.reuma.2016.02.012. PMID: 27101742
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
Dragieva G, Stahel HU, Meyer M, Kempf W, Häffner A, Burg G, Hafner J
Vasa 2003 Aug;32(3):159-63. doi: 10.1024/0301-1526.32.3.159. PMID: 14524037

Therapy

Huang C, Chen LY, Liao YH, Masodsai K, Lin YY
Int J Environ Res Public Health 2022 Sep 22;19(19) doi: 10.3390/ijerph191911994. PMID: 36231295Free PMC Article
Plotkin D, Coleman M, Van Every D, Maldonado J, Oberlin D, Israetel M, Feather J, Alto A, Vigotsky AD, Schoenfeld BJ
PeerJ 2022;10:e14142. Epub 2022 Sep 30 doi: 10.7717/peerj.14142. PMID: 36199287Free PMC Article
Schoenfeld BJ, Contreras B, Krieger J, Grgic J, Delcastillo K, Belliard R, Alto A
Med Sci Sports Exerc 2019 Jan;51(1):94-103. doi: 10.1249/MSS.0000000000001764. PMID: 30153194Free PMC Article
Schoenfeld BJ, Pope ZK, Benik FM, Hester GM, Sellers J, Nooner JL, Schnaiter JA, Bond-Williams KE, Carter AS, Ross CL, Just BL, Henselmans M, Krieger JW
J Strength Cond Res 2016 Jul;30(7):1805-12. doi: 10.1519/JSC.0000000000001272. PMID: 26605807
Ozaki H, Loenneke JP, Thiebaud RS, Abe T
Acta Physiol Hung 2015 Mar;102(1):1-22. doi: 10.1556/APhysiol.102.2015.1.1. PMID: 25804386

Prognosis

Henson DP, Edgar C, Ding Z, Sivapuratharasu B, Le Feuvre P, Finnegan ME, Quest R, McGregor AH, Bull AMJ
J Biomech 2021 Aug 26;125:110599. Epub 2021 Jun 29 doi: 10.1016/j.jbiomech.2021.110599. PMID: 34265657
Rodríguez-Gómez I, Santalla A, Díez-Bermejo J, Munguía-Izquierdo D, Alegre LM, Nogales-Gadea G, Arenas J, Martín MA, Lucía A, Ara I
J Inherit Metab Dis 2018 Nov;41(6):1037-1042. Epub 2018 Mar 28 doi: 10.1007/s10545-018-0170-7. PMID: 29594644
Mersmann F, Bohm S, Schroll A, Boeth H, Duda G, Arampatzis A
Scand J Med Sci Sports 2015 Apr;25(2):e208-13. Epub 2014 Jun 27 doi: 10.1111/sms.12285. PMID: 24975992
Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M
Brain 2007 Dec;130(Pt 12):3250-64. doi: 10.1093/brain/awm271. PMID: 18055494
Enjolras O, Chapot R, Merland JJ
J Pediatr Orthop B 2004 Nov;13(6):349-57. doi: 10.1097/01202412-200411000-00001. PMID: 15599224

Clinical prediction guides

Huang C, Chen LY, Liao YH, Masodsai K, Lin YY
Int J Environ Res Public Health 2022 Sep 22;19(19) doi: 10.3390/ijerph191911994. PMID: 36231295Free PMC Article
Plotkin D, Coleman M, Van Every D, Maldonado J, Oberlin D, Israetel M, Feather J, Alto A, Vigotsky AD, Schoenfeld BJ
PeerJ 2022;10:e14142. Epub 2022 Sep 30 doi: 10.7717/peerj.14142. PMID: 36199287Free PMC Article
Enes A, Alves RC, Schoenfeld BJ, Oneda G, Perin SC, Trindade TB, Prestes J, Souza-Junior TP
Appl Physiol Nutr Metab 2021 Nov;46(11):1417-1424. Epub 2021 Jul 14 doi: 10.1139/apnm-2021-0278. PMID: 34260860
Grgic J, Schoenfeld BJ, Mikulic P
J Sport Health Sci 2021 Sep;10(5):530-536. Epub 2020 Jun 21 doi: 10.1016/j.jshs.2020.06.010. PMID: 32579911Free PMC Article
Nunes JP, Ribeiro AS, Schoenfeld BJ, Tomeleri CM, Avelar A, Trindade MC, Nabuco HC, Cavalcante EF, Junior PS, Fernandes RR, Carvalho FO, Cyrino ES
Nutr Health 2017 Dec;23(4):223-229. doi: 10.1177/0260106017737013. PMID: 29214923

Recent systematic reviews

Barreto RV, de Lima LCR, Borszcz FK, de Lucas RD, Denadai BS
Int J Environ Res Public Health 2023 Feb 6;20(4) doi: 10.3390/ijerph20042861. PMID: 36833557Free PMC Article
Liao CD, Chen HC, Kuo YC, Tsauo JY, Huang SW, Liou TH
Arthritis Care Res (Hoboken) 2020 Dec;72(12):1703-1718. doi: 10.1002/acr.24097. PMID: 31628720
Schoenfeld BJ, Grgic J, Krieger J
J Sports Sci 2019 Jun;37(11):1286-1295. Epub 2018 Dec 17 doi: 10.1080/02640414.2018.1555906. PMID: 30558493
Sabag A, Najafi A, Michael S, Esgin T, Halaki M, Hackett D
J Sports Sci 2018 Nov;36(21):2472-2483. Epub 2018 Apr 16 doi: 10.1080/02640414.2018.1464636. PMID: 29658408
Cheema BS, Chan D, Fahey P, Atlantis E
Sports Med 2014 Aug;44(8):1125-38. doi: 10.1007/s40279-014-0176-8. PMID: 24696049

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