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Central hypotonia

MedGen UID:
330833
Concept ID:
C1842364
Finding
Synonym: Hypotonia, central

Professional guidelines

PubMed

Lasa-Aranzasti A, Larasati YA, da Silva Cardoso J, Solis GP, Koval A, Cazurro-Gutiérrez A, Ortigoza-Escobar JD, Miranda MC, De la Casa-Fages B, Moreno-Galdó A, Tizzano EF, Gómez-Andrés D, Verdura E, Katanaev VL, Pérez-Dueñas B; Study Group of GNAO1 patients from Spain
Mov Disord 2024 Sep;39(9):1578-1591. Epub 2024 Jun 16 doi: 10.1002/mds.29881. PMID: 38881224
Thiel M, Bamborschke D, Janzarik WG, Assmann B, Zittel S, Patzer S, Auhuber A, Opp J, Matzker E, Bevot A, Seeger J, van Baalen A, Stüve B, Brockmann K, Cirak S, Koy A
J Neurol Neurosurg Psychiatry 2023 Oct;94(10):806-815. Epub 2023 May 24 doi: 10.1136/jnnp-2022-330261. PMID: 37225406
Dan B
Dev Med Child Neurol 2022 Jan;64(1):4. doi: 10.1111/dmcn.15085. PMID: 34897666

Recent clinical studies

Etiology

Lasa-Aranzasti A, Larasati YA, da Silva Cardoso J, Solis GP, Koval A, Cazurro-Gutiérrez A, Ortigoza-Escobar JD, Miranda MC, De la Casa-Fages B, Moreno-Galdó A, Tizzano EF, Gómez-Andrés D, Verdura E, Katanaev VL, Pérez-Dueñas B; Study Group of GNAO1 patients from Spain
Mov Disord 2024 Sep;39(9):1578-1591. Epub 2024 Jun 16 doi: 10.1002/mds.29881. PMID: 38881224
Gur S, Gurbuz G, Tozkir H
J Coll Physicians Surg Pak 2023 Sep;33(9):1028-1034. doi: 10.29271/jcpsp.2023.09.1028. PMID: 37691366
Thiel M, Bamborschke D, Janzarik WG, Assmann B, Zittel S, Patzer S, Auhuber A, Opp J, Matzker E, Bevot A, Seeger J, van Baalen A, Stüve B, Brockmann K, Cirak S, Koy A
J Neurol Neurosurg Psychiatry 2023 Oct;94(10):806-815. Epub 2023 May 24 doi: 10.1136/jnnp-2022-330261. PMID: 37225406
Owen MJ, Lenberg J, Feigenbaum A, Gold J, Chau K, Bezares-Orin Z, Ding Y, Chowdhury S, Kingsmore SF
Cold Spring Harb Mol Case Stud 2021 Jun;7(3) Epub 2021 Jun 11 doi: 10.1101/mcs.a006091. PMID: 34117075Free PMC Article
Wallace GB, Newton RW
Arch Dis Child 1989 Sep;64(9):1317-9. doi: 10.1136/adc.64.9.1317. PMID: 2817955Free PMC Article

Diagnosis

Horton A, Hong KM, Pandithan D, Allen M, Killick C, Goergen S, Springer A, Phelan D, Marty M, Halligan R, Lee J, Pitt J, Chong B, Christodoulou J, Lunke S, Stark Z, Fahey M
Cold Spring Harb Mol Case Stud 2022 Feb;8(2) Epub 2022 Mar 24 doi: 10.1101/mcs.a006193. PMID: 35165146Free PMC Article
Dan B
Dev Med Child Neurol 2022 Jan;64(1):4. doi: 10.1111/dmcn.15085. PMID: 34897666
Kunwar F, Pabst R, Bakshi S
J Matern Fetal Neonatal Med 2020 Mar;33(6):1027-1029. Epub 2018 Sep 6 doi: 10.1080/14767058.2018.1506443. PMID: 30189761
Paleg G, Romness M, Livingstone R
J Pediatr Rehabil Med 2018;11(1):57-70. doi: 10.3233/PRM-170507. PMID: 29630564
Rodan LH, Cohen J, Fatemi A, Gillis T, Lucente D, Gusella J, Picker JD
Eur J Hum Genet 2016 Dec;24(12):1826-1827. Epub 2016 Jun 22 doi: 10.1038/ejhg.2016.74. PMID: 27329733Free PMC Article

Therapy

Patel N, Madi P, Monteiro I, Shah SP
BMC Pediatr 2024 Jul 5;24(1):434. doi: 10.1186/s12887-024-04907-8. PMID: 38969971Free PMC Article
Ünsal Y, Hayran G
J Clin Res Pediatr Endocrinol 2024 Mar 11;16(1):116-122. Epub 2023 Dec 6 doi: 10.4274/jcrpe.galenos.2023.2023-10-1. PMID: 38054413Free PMC Article
O' Brien N, Hayes B
BMJ Case Rep 2019 Dec 15;12(12) doi: 10.1136/bcr-2019-231458. PMID: 31843770Free PMC Article
Mercimek-Mahmutoglu S, Horvath GA, Coulter-Mackie M, Nelson T, Waters PJ, Sargent M, Struys E, Jakobs C, Stockler-Ipsiroglu S, Connolly MB
Pediatrics 2012 May;129(5):e1368-72. Epub 2012 Apr 23 doi: 10.1542/peds.2011-0123. PMID: 22529283
Choi SS, Zalzal GH
Otolaryngol Head Neck Surg 2000 Jan;122(1):61-3. doi: 10.1016/S0194-5998(00)70145-8. PMID: 10629484

Prognosis

Gur S, Gurbuz G, Tozkir H
J Coll Physicians Surg Pak 2023 Sep;33(9):1028-1034. doi: 10.29271/jcpsp.2023.09.1028. PMID: 37691366
Thiel M, Bamborschke D, Janzarik WG, Assmann B, Zittel S, Patzer S, Auhuber A, Opp J, Matzker E, Bevot A, Seeger J, van Baalen A, Stüve B, Brockmann K, Cirak S, Koy A
J Neurol Neurosurg Psychiatry 2023 Oct;94(10):806-815. Epub 2023 May 24 doi: 10.1136/jnnp-2022-330261. PMID: 37225406
Dan B
Dev Med Child Neurol 2022 Jan;64(1):4. doi: 10.1111/dmcn.15085. PMID: 34897666
Sweeney NM, Nahas SA, Chowdhury S, Campo MD, Jones MC, Dimmock DP, Kingsmore SF; RCIGM Investigators
Cold Spring Harb Mol Case Stud 2018 Jun;4(3) Epub 2018 Jun 1 doi: 10.1101/mcs.a002469. PMID: 29549119Free PMC Article
Verma S
Indian J Pediatr 2008 Apr;75(4):402-4. PMID: 18589880

Clinical prediction guides

Lasa-Aranzasti A, Larasati YA, da Silva Cardoso J, Solis GP, Koval A, Cazurro-Gutiérrez A, Ortigoza-Escobar JD, Miranda MC, De la Casa-Fages B, Moreno-Galdó A, Tizzano EF, Gómez-Andrés D, Verdura E, Katanaev VL, Pérez-Dueñas B; Study Group of GNAO1 patients from Spain
Mov Disord 2024 Sep;39(9):1578-1591. Epub 2024 Jun 16 doi: 10.1002/mds.29881. PMID: 38881224
Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Karimiani EG, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Toosi MB, Akhondian J, Babaei M, Hashemi N, Schnur RE, Suri M, Setzke J, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Galehdari H, Severino M, Houlden H, Hübner CA
Genet Med 2024 Mar;26(3):101034. Epub 2023 Dec 3 doi: 10.1016/j.gim.2023.101034. PMID: 38054405Free PMC Article
Thiel M, Bamborschke D, Janzarik WG, Assmann B, Zittel S, Patzer S, Auhuber A, Opp J, Matzker E, Bevot A, Seeger J, van Baalen A, Stüve B, Brockmann K, Cirak S, Koy A
J Neurol Neurosurg Psychiatry 2023 Oct;94(10):806-815. Epub 2023 May 24 doi: 10.1136/jnnp-2022-330261. PMID: 37225406
Kunwar F, Pabst R, Bakshi S
J Matern Fetal Neonatal Med 2020 Mar;33(6):1027-1029. Epub 2018 Sep 6 doi: 10.1080/14767058.2018.1506443. PMID: 30189761
Tomčíková D, Gerinec A, Bzdúch V, Krásnik V, Bušányová B, Brennerová K
Cesk Slov Oftalmol 2018 Winter;74(3):104-106. doi: 10.31348/2018/1/4-3-2018. PMID: 30650973

Recent systematic reviews

Paleg G, Romness M, Livingstone R
J Pediatr Rehabil Med 2018;11(1):57-70. doi: 10.3233/PRM-170507. PMID: 29630564

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