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Paroxysmal tonic upgaze

MedGen UID:
1784433
Concept ID:
C5543481
Finding
HPO: HP:0033980

Definition

Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVParoxysmal tonic upgaze

Conditions with this feature

Oculootoradial syndrome
MedGen UID:
233003
Concept ID:
C1327918
Disease or Syndrome
IVIC syndrome (IVIC) is an autosomal dominant disorder characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral nonprogressive mixed hearing loss. More variable features include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation, and rectovaginal fistula (summary by Paradisi and Arias, 2007).
Pontocerebellar hypoplasia type 2D
MedGen UID:
462490
Concept ID:
C3151140
Disease or Syndrome
PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (277470).

Recent clinical studies

Etiology

Mosca S, Martins J, Temudo T
Rev Neurol 2022 Feb 16;74(4):135-140. doi: 10.33588/rn.7404.2021326. PMID: 35148422
Fernández-Alvarez E
Eur J Paediatr Neurol 2018 Mar;22(2):230-237. Epub 2018 Jan 12 doi: 10.1016/j.ejpn.2018.01.003. PMID: 29366536
Shin M, Douglass LM, Milunsky JM, Rosman NP
J Child Neurol 2016 Jul;31(8):1057-61. Epub 2016 Mar 9 doi: 10.1177/0883073816636226. PMID: 26961263
Salmina C, Taddeo I, Falesi M, Weber P, Bianchetti MG, Ramelli GP
Eur J Paediatr Neurol 2012 Nov;16(6):683-7. Epub 2012 May 15 doi: 10.1016/j.ejpn.2012.04.004. PMID: 22591809
Casseron W, Genton P
Dev Med Child Neurol 2005 Mar;47(3):200-3. doi: 10.1017/s0012162205000368. PMID: 15739726

Diagnosis

Mosca S, Martins J, Temudo T
Rev Neurol 2022 Feb 16;74(4):135-140. doi: 10.33588/rn.7404.2021326. PMID: 35148422
Solazzi R, Castellotti B, Canafoglia L, Messina G, Magri S, Freri E, Ragona F, Franceschetti S, Di Francesco JC, Gellera C, Granata T
Epileptic Disord 2021 Aug 1;23(4):643-647. doi: 10.1684/epd.2021.1305. PMID: 34259158
Zhang YF, Wang YZ, Hao XS, Zhang HB, Wang JT, Liang JM
J Int Med Res 2021 Feb;49(2):300060520984929. doi: 10.1177/0300060520984929. PMID: 33530807Free PMC Article
Nagy E, Hollody K
Epileptic Disord 2019 Oct 1;21(5):458-462. doi: 10.1684/epd.2019.1098. PMID: 31649006
Kartal A
Pediatr Emerg Care 2019 Apr;35(4):e67-e69. doi: 10.1097/PEC.0000000000001327. PMID: 29095389

Therapy

Zhang YF, Wang YZ, Hao XS, Zhang HB, Wang JT, Liang JM
J Int Med Res 2021 Feb;49(2):300060520984929. doi: 10.1177/0300060520984929. PMID: 33530807Free PMC Article
Quade A, Thiel A, Kurth I, Holtgrewe M, Elbracht M, Beule D, Eggermann K, Scholl UI, Häusler M
Eur J Paediatr Neurol 2020 Mar;25:181-186. Epub 2019 Nov 20 doi: 10.1016/j.ejpn.2019.11.002. PMID: 31810576
Salmina C, Taddeo I, Falesi M, Weber P, Bianchetti MG, Ramelli GP
Eur J Paediatr Neurol 2012 Nov;16(6):683-7. Epub 2012 May 15 doi: 10.1016/j.ejpn.2012.04.004. PMID: 22591809
Verrotti A, Di Marco G, la Torre R, Chiarelli F
Eur J Paediatr Neurol 2010 Jan;14(1):93-6. Epub 2009 Jul 8 doi: 10.1016/j.ejpn.2009.06.003. PMID: 19589711
Casseron W, Genton P
Dev Med Child Neurol 2005 Mar;47(3):200-3. doi: 10.1017/s0012162205000368. PMID: 15739726

Prognosis

Kartal A
Pediatr Emerg Care 2019 Apr;35(4):e67-e69. doi: 10.1097/PEC.0000000000001327. PMID: 29095389
Danielsson A, Anderlid BM, Stödberg T, Lagerstedt-Robinson K, Klackenberg Arrhenius E, Tedroff K
Dev Med Child Neurol 2018 Dec;60(12):1251-1255. Epub 2018 Jun 28 doi: 10.1111/dmcn.13939. PMID: 29956301
Salmina C, Taddeo I, Falesi M, Weber P, Bianchetti MG, Ramelli GP
Eur J Paediatr Neurol 2012 Nov;16(6):683-7. Epub 2012 May 15 doi: 10.1016/j.ejpn.2012.04.004. PMID: 22591809
Casseron W, Genton P
Dev Med Child Neurol 2005 Mar;47(3):200-3. doi: 10.1017/s0012162205000368. PMID: 15739726
Hayman M, Harvey AS, Hopkins IJ, Kornberg AJ, Coleman LT, Shield LK
Ann Neurol 1998 Apr;43(4):514-20. doi: 10.1002/ana.410430416. PMID: 9546334

Clinical prediction guides

Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H; Rady Children's Institute for Genomic Medicine, Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S; Undiagnosed Disease Network, Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J
Brain 2022 Oct 21;145(10):3383-3390. doi: 10.1093/brain/awac223. PMID: 35737950Free PMC Article
Solazzi R, Castellotti B, Canafoglia L, Messina G, Magri S, Freri E, Ragona F, Franceschetti S, Di Francesco JC, Gellera C, Granata T
Epileptic Disord 2021 Aug 1;23(4):643-647. doi: 10.1684/epd.2021.1305. PMID: 34259158
Humbertclaude V, Riant F, Krams B, Zimmermann V, Nagot N, Annequin D, Echenne B, Tournier-Lasserve E, Roubertie A; Episodic Syndrome Consortium
Dev Med Child Neurol 2020 Mar;62(3):330-337. Epub 2019 May 21 doi: 10.1111/dmcn.14261. PMID: 31115040
Casseron W, Genton P
Dev Med Child Neurol 2005 Mar;47(3):200-3. doi: 10.1017/s0012162205000368. PMID: 15739726
Hayman M, Harvey AS, Hopkins IJ, Kornberg AJ, Coleman LT, Shield LK
Ann Neurol 1998 Apr;43(4):514-20. doi: 10.1002/ana.410430416. PMID: 9546334

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