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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
Segal I, Peylan T, Sucre J, Levi L, Bassan H
Pediatr Phys Ther 2016 fall;28(3):332-6. doi: 10.1097/PEP.0000000000000265. PMID: 27027244
Battaglia A
Brain Dev 2005 Aug;27(5):365-9. Epub 2005 Apr 22 doi: 10.1016/j.braindev.2004.08.006. PMID: 16023554

Diagnosis

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
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK
Epilepsia Open 2023 Dec;8(4):1383-1404. Epub 2023 Aug 25 doi: 10.1002/epi4.12811. PMID: 37583270Free PMC Article
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
Paleg G, Romness M, Livingstone R
J Pediatr Rehabil Med 2018;11(1):57-70. doi: 10.3233/PRM-170507. PMID: 29630564

Therapy

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
Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA
J Neuroimmunol 2008 Sep 15;201-202:6-12. Epub 2008 Aug 15 doi: 10.1016/j.jneuroim.2008.06.026. PMID: 18707767
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
Jafri SK, Kumar R, Lashari SK, Chand P
J Pak Med Assoc 2017 Oct;67(10):1609-1611. PMID: 28955085
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
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
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK
Epilepsia Open 2023 Dec;8(4):1383-1404. Epub 2023 Aug 25 doi: 10.1002/epi4.12811. PMID: 37583270Free 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

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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