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Spasmus nutans

MedGen UID:
154280
Concept ID:
C0546878
Disease or Syndrome
Synonyms: Nodding Spasm; Nodding Spasms; Spasm, Nodding; Spasms, Nodding
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
HPO: HP:0010533
Monarch Initiative: MONDO:0017201
Orphanet: ORPHA279882

Definition

The combination of pendular nystagmus, head nodding, and torticollis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpasmus nutans

Conditions with this feature

Developmental and epileptic encephalopathy 6B
MedGen UID:
1779648
Concept ID:
C5543353
Disease or Syndrome
SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome are often associated with cognitive decline. Less commonly observed phenotypes include myoclonic astatic epilepsy (MAE), Lennox-Gastaut syndrome, infantile spasms, epilepsy with focal seizures, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A seizure disorders can vary even within the same family.

Professional guidelines

PubMed

Gresty MA, Ell JJ
Br J Ophthalmol 1981 Jul;65(7):510-1. doi: 10.1136/bjo.65.7.510-a. PMID: 7260026Free PMC Article

Recent clinical studies

Etiology

Hennein L, Heidary G, Gaier ED, Gise R
BMC Ophthalmol 2024 Jun 12;24(1):253. doi: 10.1186/s12886-024-03494-7. PMID: 38867186Free PMC Article
Mosca S, Martins J, Temudo T
Rev Neurol 2022 Feb 16;74(4):135-140. doi: 10.33588/rn.7404.2021326. PMID: 35148422Free PMC Article
Parikh RN, Simon JW, Zobal-Ratner JL, Barry GP
J Binocul Vis Ocul Motil 2018 Oct-Dec;68(4):137-139. Epub 2018 Oct 17 doi: 10.1080/2576117X.2018.1527639. PMID: 30332338
Gottlob I, Wizov SS, Reinecke RD
Invest Ophthalmol Vis Sci 1995 Dec;36(13):2768-71. PMID: 7499100
Gottlob I, Zubcov A, Catalano RA, Reinecke RD, Koller HP, Calhoun JH, Manley DR
Ophthalmology 1990 Sep;97(9):1166-75. doi: 10.1016/s0161-6420(90)32440-5. PMID: 2234849

Diagnosis

Mosca S, Martins J, Temudo T
Rev Neurol 2022 Feb 16;74(4):135-140. doi: 10.33588/rn.7404.2021326. PMID: 35148422Free PMC Article
Parikh RN, Simon JW, Zobal-Ratner JL, Barry GP
J Binocul Vis Ocul Motil 2018 Oct-Dec;68(4):137-139. Epub 2018 Oct 17 doi: 10.1080/2576117X.2018.1527639. PMID: 30332338
Uddin MK, Rodnitzky RL
Semin Pediatr Neurol 2003 Mar;10(1):26-34. doi: 10.1016/s1071-9091(02)00006-2. PMID: 12785745
Aung T, Yap SK, Yap EY, Fam HB
Ann Acad Med Singap 1996 Jul;25(4):596-8. PMID: 8893938
Newman SA, Hedges TR, Wall M, Sedwick LA
Surv Ophthalmol 1990 May-Jun;34(6):453-6. doi: 10.1016/0039-6257(90)90126-g. PMID: 2194309

Therapy

Jeong SH, Oh YM, Hwang JM, Kim JS
Br J Ophthalmol 2008 Oct;92(10):1402. doi: 10.1136/bjo.2007.135624. PMID: 18815421

Prognosis

Hennein L, Heidary G, Gaier ED, Gise R
BMC Ophthalmol 2024 Jun 12;24(1):253. doi: 10.1186/s12886-024-03494-7. PMID: 38867186Free PMC Article
Parikh RN, Simon JW, Zobal-Ratner JL, Barry GP
J Binocul Vis Ocul Motil 2018 Oct-Dec;68(4):137-139. Epub 2018 Oct 17 doi: 10.1080/2576117X.2018.1527639. PMID: 30332338
Young TL, Weis JR, Summers CG, Egbert JE
Ophthalmology 1997 Jan;104(1):112-7. doi: 10.1016/s0161-6420(97)30353-4. PMID: 9022113
Carruthers J
Curr Opin Ophthalmol 1996 Oct;7(5):3-7. doi: 10.1097/00055735-199610000-00002. PMID: 10165105
Gottlob I, Wizov SS, Reinecke RD
Invest Ophthalmol Vis Sci 1995 Dec;36(13):2768-71. PMID: 7499100

Clinical prediction guides

Parikh RN, Simon JW, Zobal-Ratner JL, Barry GP
J Binocul Vis Ocul Motil 2018 Oct-Dec;68(4):137-139. Epub 2018 Oct 17 doi: 10.1080/2576117X.2018.1527639. PMID: 30332338
Wizov SS, Reinecke RD, Bocarnea M, Gottlob I
Am J Ophthalmol 2002 Feb;133(2):256-62. doi: 10.1016/s0002-9394(01)01363-0. PMID: 11812431
Gottlob I, Helbling A
Am J Ophthalmol 1999 Dec;128(6):770-2. doi: 10.1016/s0002-9394(99)00293-7. PMID: 10612522
Carruthers J
Curr Opin Ophthalmol 1996 Oct;7(5):3-7. doi: 10.1097/00055735-199610000-00002. PMID: 10165105
GREENBERG NH
Psychosom Med 1964 Mar-Apr;26:162-71. doi: 10.1097/00006842-196403000-00007. PMID: 14132977

Recent systematic reviews

Celdrán-Vivancos D, Noval-Martín S, González-Manrique M, Negoita A, Porto-Castro S
Arch Soc Esp Oftalmol (Engl Ed) 2021 Jul;96(7):366-376. Epub 2021 Feb 27 doi: 10.1016/j.oftale.2020.09.018. PMID: 34217474

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