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Nystagmus, myoclonic

MedGen UID:
326918
Concept ID:
C1839579
Disease or Syndrome
Synonym: Nystagmus, Myoclonic
 
Monarch Initiative: MONDO:0010694
OMIM®: 310800

Clinical features

From HPO
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

Professional guidelines

PubMed

Fogarasi A, Tuxhorn I, Hegyi M, Janszky J
Epilepsia 2005 Aug;46(8):1280-5. doi: 10.1111/j.1528-1167.2005.06105.x. PMID: 16060940

Recent clinical studies

Etiology

Yubero D, O'Callaghan M, Montero R, Ormazabal A, Armstrong J, Espinos C, Rodríguez MA, Jou C, Castejon E, Aracil MA, Cascajo MV, Gavilan A, Briones P, Jimenez-Mallebrera C, Pineda M, Navas P, Artuch R
BMC Pediatr 2014 Nov 8;14:284. doi: 10.1186/s12887-014-0284-5. PMID: 25381171Free PMC Article
Bour LJ, van Rootselaar AF, Koelman JH, Tijssen MA
Brain 2008 Sep;131(Pt 9):2295-303. Epub 2008 Aug 7 doi: 10.1093/brain/awn177. PMID: 18687731
Fogarasi A, Tuxhorn I, Hegyi M, Janszky J
Epilepsia 2005 Aug;46(8):1280-5. doi: 10.1111/j.1528-1167.2005.06105.x. PMID: 16060940
Rabiah PK, Bateman JB, Demer JL, Perlman S
Am J Ophthalmol 1997 Jan;123(1):108-17. doi: 10.1016/s0002-9394(14)71000-1. PMID: 9186105
Baloh RW, Konrad HR, Honrubia V
Neurology 1975 Feb;25(2):160-8. doi: 10.1212/wnl.25.2.160. PMID: 1078721

Diagnosis

Ogut E, Armagan K, Tufekci D
Neurosurg Rev 2023 Jul 20;46(1):181. doi: 10.1007/s10143-023-02086-1. PMID: 37468768
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G
Brain 2022 May 24;145(4):1519-1534. doi: 10.1093/brain/awab407. PMID: 34788392
Rabiah PK, Bateman JB, Demer JL, Perlman S
Am J Ophthalmol 1997 Jan;123(1):108-17. doi: 10.1016/s0002-9394(14)71000-1. PMID: 9186105
Gresty MA, Halmagyi GM
J Neurol Neurosurg Psychiatry 1979 Aug;42(8):705-14. doi: 10.1136/jnnp.42.8.705. PMID: 490176Free PMC Article
Baloh RW, Konrad HR, Honrubia V
Neurology 1975 Feb;25(2):160-8. doi: 10.1212/wnl.25.2.160. PMID: 1078721

Therapy

Yubero D, O'Callaghan M, Montero R, Ormazabal A, Armstrong J, Espinos C, Rodríguez MA, Jou C, Castejon E, Aracil MA, Cascajo MV, Gavilan A, Briones P, Jimenez-Mallebrera C, Pineda M, Navas P, Artuch R
BMC Pediatr 2014 Nov 8;14:284. doi: 10.1186/s12887-014-0284-5. PMID: 25381171Free PMC Article
Engelsen BA, Tzoulis C, Karlsen B, Lillebø A, Laegreid LM, Aasly J, Zeviani M, Bindoff LA
Brain 2008 Mar;131(Pt 3):818-28. Epub 2008 Jan 30 doi: 10.1093/brain/awn007. PMID: 18238797
van Rootselaar AF, van der Salm SM, Bour LJ, Edwards MJ, Brown P, Aronica E, Rozemuller-Kwakkel JM, Koehler PJ, Koelman JH, Rothwell JC, Tijssen MA
Mov Disord 2007 Dec;22(16):2378-85. doi: 10.1002/mds.21738. PMID: 17894334
Smith NT, Benthuysen JL, Bickford RG, Sanford TJ, Blasco T, Duke PC, Head N, Dec-Silver H
Anesthesiology 1989 Dec;71(6):852-62. doi: 10.1097/00000542-198912000-00008. PMID: 2531560
Flink EB
Acta Med Scand Suppl 1981;647:125-37. doi: 10.1111/j.0954-6820.1981.tb02648.x. PMID: 7020347

Prognosis

Ogut E, Armagan K, Tufekci D
Neurosurg Rev 2023 Jul 20;46(1):181. doi: 10.1007/s10143-023-02086-1. PMID: 37468768
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G
Brain 2022 May 24;145(4):1519-1534. doi: 10.1093/brain/awab407. PMID: 34788392
Engelsen BA, Tzoulis C, Karlsen B, Lillebø A, Laegreid LM, Aasly J, Zeviani M, Bindoff LA
Brain 2008 Mar;131(Pt 3):818-28. Epub 2008 Jan 30 doi: 10.1093/brain/awn007. PMID: 18238797
Fogarasi A, Tuxhorn I, Hegyi M, Janszky J
Epilepsia 2005 Aug;46(8):1280-5. doi: 10.1111/j.1528-1167.2005.06105.x. PMID: 16060940
Keane JR
Ann Neurol 1981 Apr;9(4):409-12. doi: 10.1002/ana.410090418. PMID: 7224608

Clinical prediction guides

Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G
Brain 2022 May 24;145(4):1519-1534. doi: 10.1093/brain/awab407. PMID: 34788392
Sun L, Wu J, Liu C, Lin W
Neurol Res 2016 Oct;38(10):893-6. Epub 2016 Jun 24 doi: 10.1080/01616412.2016.1199297. PMID: 27342741
Engelsen BA, Tzoulis C, Karlsen B, Lillebø A, Laegreid LM, Aasly J, Zeviani M, Bindoff LA
Brain 2008 Mar;131(Pt 3):818-28. Epub 2008 Jan 30 doi: 10.1093/brain/awn007. PMID: 18238797
Fogarasi A, Tuxhorn I, Hegyi M, Janszky J
Epilepsia 2005 Aug;46(8):1280-5. doi: 10.1111/j.1528-1167.2005.06105.x. PMID: 16060940
Alpert JN, Suga H, Perusquia E
J Neurol Sci 1976 Jan;27(1):71-8. doi: 10.1016/0022-510x(76)90235-5. PMID: 1249581

Recent systematic reviews

Ogut E, Armagan K, Tufekci D
Neurosurg Rev 2023 Jul 20;46(1):181. doi: 10.1007/s10143-023-02086-1. PMID: 37468768

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