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Muscular hypotonia

MedGen UID:
504768
Concept ID:
CN001147
Finding
Synonyms: Muscle hypotonia
 

Definition

Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching. [from HPO]

Recent clinical studies

Etiology

Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kölker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Müller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C
Am J Hum Genet 2016 Aug 4;99(2):414-22. Epub 2016 Jul 14 doi: 10.1016/j.ajhg.2016.05.027. PMID: 27426735Free PMC Article
Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R
J Inherit Metab Dis 2015 Sep;38(5):905-14. Epub 2015 Apr 14 doi: 10.1007/s10545-015-9836-6. PMID: 25868664Free PMC Article
Cimolin V, Galli M, Vismara L, Grugni G, Camerota F, Celletti C, Albertini G, Rigoldi C, Capodaglio P
Res Dev Disabil 2011 Sep-Oct;32(5):1722-8. Epub 2011 Mar 31 doi: 10.1016/j.ridd.2011.02.028. PMID: 21454046
Honzík T, Tesarová M, Mayr JA, Hansíková H, Jesina P, Bodamer O, Koch J, Magner M, Freisinger P, Huemer M, Kostková O, van Coster R, Kmoch S, Houstêk J, Sperl W, Zeman J
Arch Dis Child 2010 Apr;95(4):296-301. doi: 10.1136/adc.2009.168096. PMID: 20335238
Manegold C, Hoffmann GF, Degen I, Ikonomidou H, Knust A, Laass MW, Pritsch M, Wilichowski E, Hörster F
J Inherit Metab Dis 2009 Jun;32(3):371-80. Epub 2009 Jan 28 doi: 10.1007/s10545-009-1076-1. PMID: 19172410

Diagnosis

Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K
Epilepsia 2014 Apr;55(4):e25-9. Epub 2014 Mar 1 doi: 10.1111/epi.12554. PMID: 24579881
Honzík T, Tesarová M, Mayr JA, Hansíková H, Jesina P, Bodamer O, Koch J, Magner M, Freisinger P, Huemer M, Kostková O, van Coster R, Kmoch S, Houstêk J, Sperl W, Zeman J
Arch Dis Child 2010 Apr;95(4):296-301. doi: 10.1136/adc.2009.168096. PMID: 20335238
Yiş U, Dirik E, Chambaz C, Steinmann B, Giunta C
Neuromuscul Disord 2008 Mar;18(3):210-4. Epub 2007 Dec 26 doi: 10.1016/j.nmd.2007.11.006. PMID: 18155911
Horváth R, Freisinger P, Rubio R, Merl T, Bax R, Mayr JA, Shawan, Müller-Höcker J, Pongratz D, Moller LB, Horn N, Jaksch M
J Inherit Metab Dis 2005;28(4):479-92. doi: 10.1007/s10545-005-0479-x. PMID: 15902551
Gillessen-Kaesbach G, Demuth S, Thiele H, Theile U, Lich C, Horsthemke B
Eur J Hum Genet 1999 Sep;7(6):638-44. doi: 10.1038/sj.ejhg.5200362. PMID: 10482951

Therapy

Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kölker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Müller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C
Am J Hum Genet 2016 Aug 4;99(2):414-22. Epub 2016 Jul 14 doi: 10.1016/j.ajhg.2016.05.027. PMID: 27426735Free PMC Article
Manegold C, Hoffmann GF, Degen I, Ikonomidou H, Knust A, Laass MW, Pritsch M, Wilichowski E, Hörster F
J Inherit Metab Dis 2009 Jun;32(3):371-80. Epub 2009 Jan 28 doi: 10.1007/s10545-009-1076-1. PMID: 19172410
Rochow N, Küster H, Bandt C, Hoffmann U, Fusch C
Acta Paediatr 2008 Dec;97(12):1602-3, 1758-9. doi: 10.1111/j.1651-2227.2008.00972.x. PMID: 19032348
Porro G, Carboni P, Spagnoli LG, Palmieri G
Riv Neurol 1987 Jul-Aug;57(4):251-60. PMID: 3685784
Niederwieser A, Blau N, Wang M, Joller P, Atarés M, Cardesa-Garcia J
Eur J Pediatr 1984 Feb;141(4):208-14. PMID: 6734669

Prognosis

Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kölker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Müller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C
Am J Hum Genet 2016 Aug 4;99(2):414-22. Epub 2016 Jul 14 doi: 10.1016/j.ajhg.2016.05.027. PMID: 27426735Free PMC Article
Fauth C, Steindl K, Toutain A, Farrell S, Witsch-Baumgartner M, Karall D, Joset P, Böhm S, Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A
Am J Med Genet A 2016 Feb;170A(2):392-402. Epub 2015 Nov 6 doi: 10.1002/ajmg.a.37452. PMID: 26545172
Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R
J Inherit Metab Dis 2015 Sep;38(5):905-14. Epub 2015 Apr 14 doi: 10.1007/s10545-015-9836-6. PMID: 25868664Free PMC Article
Honzík T, Tesarová M, Mayr JA, Hansíková H, Jesina P, Bodamer O, Koch J, Magner M, Freisinger P, Huemer M, Kostková O, van Coster R, Kmoch S, Houstêk J, Sperl W, Zeman J
Arch Dis Child 2010 Apr;95(4):296-301. doi: 10.1136/adc.2009.168096. PMID: 20335238
Manegold C, Hoffmann GF, Degen I, Ikonomidou H, Knust A, Laass MW, Pritsch M, Wilichowski E, Hörster F
J Inherit Metab Dis 2009 Jun;32(3):371-80. Epub 2009 Jan 28 doi: 10.1007/s10545-009-1076-1. PMID: 19172410

Clinical prediction guides

Lacruz RS, Feske S
Ann N Y Acad Sci 2015 Nov;1356:45-79. Epub 2015 Oct 15 doi: 10.1111/nyas.12938. PMID: 26469693Free PMC Article
Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R
J Inherit Metab Dis 2015 Sep;38(5):905-14. Epub 2015 Apr 14 doi: 10.1007/s10545-015-9836-6. PMID: 25868664Free PMC Article
Honzík T, Tesarová M, Mayr JA, Hansíková H, Jesina P, Bodamer O, Koch J, Magner M, Freisinger P, Huemer M, Kostková O, van Coster R, Kmoch S, Houstêk J, Sperl W, Zeman J
Arch Dis Child 2010 Apr;95(4):296-301. doi: 10.1136/adc.2009.168096. PMID: 20335238
Horváth R, Freisinger P, Rubio R, Merl T, Bax R, Mayr JA, Shawan, Müller-Höcker J, Pongratz D, Moller LB, Horn N, Jaksch M
J Inherit Metab Dis 2005;28(4):479-92. doi: 10.1007/s10545-005-0479-x. PMID: 15902551
Niederwieser A, Blau N, Wang M, Joller P, Atarés M, Cardesa-Garcia J
Eur J Pediatr 1984 Feb;141(4):208-14. PMID: 6734669

Recent systematic reviews

Gurgel-Giannetti J, Oliveira G, Brasileiro Filho G, Martins P, Vainzof M, Hirano M
JAMA Neurol 2013 Feb;70(2):258-61. doi: 10.1001/jamaneurol.2013.595. PMID: 23407777Free PMC Article
Engels H, Schüler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee JA, Ludwig KU, Kubisch C, Schwanitz G, Weber RG, Leube B, Hennekam RC, Rudnik-Schöneborn S, Kreiss-Nachtsheim M, Reutter H
Am J Med Genet A 2012 Apr;158A(4):695-706. Epub 2012 Feb 24 doi: 10.1002/ajmg.a.35256. PMID: 22367666
Rauch A, Trautmann U, Pfeiffer RA
Am J Med Genet 1996 May 3;63(1):243-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<243::AID-AJMG42>3.0.CO;2-L. PMID: 8723117
Bonthron DT, Smith SJ, Fantes J, Gosden CM
Am J Hum Genet 1993 Sep;53(3):629-37. PMID: 8352273Free PMC Article

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