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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Predictive clinical factors for the differential diagnosis of childhood extratemporal seizures.
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

Therapy

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.
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
Unilateral facial paralysis caused by Ramsay Hunt syndrome.
Pereira FP, Guskuma MH, Luvizuto ER, Faco EF, Magro-Filho O, Hochuli-Vieira E
J Craniofac Surg 2011 Sep;22(5):1961-3. doi: 10.1097/SCS.0b013e31822ea828. PMID: 21959482
Natural history of nonketotic hyperglycinemia in 65 patients.
Hoover-Fong JE, Shah S, Van Hove JL, Applegarth D, Toone J, Hamosh A
Neurology 2004 Nov 23;63(10):1847-53. doi: 10.1212/01.wnl.0000144270.83080.29. PMID: 15557500
Effects of tranylcypromine treatment on neuroendocrine, behavioral, and autonomic responses to tryptophan in depressed patients.
Price LH, Charney DS, Heninger GR
Life Sci 1985 Sep 2;37(9):809-18. doi: 10.1016/0024-3205(85)90515-6. PMID: 4033356
Magnesium deficiency. Etiology and clinical spectrum.
Flink EB
Acta Med Scand Suppl 1981;647:125-37. doi: 10.1111/j.0954-6820.1981.tb02648.x. PMID: 7020347

Prognosis

The Guillain-Mollaret triangle: a key player in motor coordination and control with implications for neurological disorders.
Ogut E, Armagan K, Tufekci D
Neurosurg Rev 2023 Jul 20;46(1):181. doi: 10.1007/s10143-023-02086-1. PMID: 37468768
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
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
Predictive clinical factors for the differential diagnosis of childhood extratemporal seizures.
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
Natural history of nonketotic hyperglycinemia in 65 patients.
Hoover-Fong JE, Shah S, Van Hove JL, Applegarth D, Toone J, Hamosh A
Neurology 2004 Nov 23;63(10):1847-53. doi: 10.1212/01.wnl.0000144270.83080.29. PMID: 15557500
Sustained upgaze in coma.
Keane JR
Ann Neurol 1981 Apr;9(4):409-12. doi: 10.1002/ana.410090418. PMID: 7224608

Clinical prediction guides

NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
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
Report of progressive myoclonus ataxia (PMA) in two Chinese pedigrees.
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
Predictive clinical factors for the differential diagnosis of childhood extratemporal seizures.
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
Electroclinical seizures in Lennox-Gastaut syndrome.
Yaqub BA
Epilepsia 1993 Jan-Feb;34(1):120-7. doi: 10.1111/j.1528-1157.1993.tb02383.x. PMID: 8422843
Lightning eye movements.
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

The Guillain-Mollaret triangle: a key player in motor coordination and control with implications for neurological disorders.
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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