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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
•
Sign or Symptom
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

Etiology

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
Oculomotor abnormalities in myoclonic tremor: a comparison with spinocerebellar ataxia type 6.
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
Ophthalmologic findings in patients with ataxia.
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
Hereditary ataxia, photomyoclonus, skeletal deformities and lipoma.
Ekbom K
Acta Neurol Scand 1975 May;51(5):393-404. doi: 10.1111/j.1600-0404.1975.tb01379.x. PMID: 1130171
Vestibulo-ocular function in patients with cerebellar atrophy.
Baloh RW, Konrad HR, Honrubia V
Neurology 1975 Feb;25(2):160-8. doi: 10.1212/wnl.25.2.160. PMID: 1078721

Diagnosis

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
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
Sustained upgaze in coma.
Keane JR
Ann Neurol 1981 Apr;9(4):409-12. doi: 10.1002/ana.410090418. PMID: 7224608
Abnormal head movements.
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

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
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
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
Decreased cortical inhibition and yet cerebellar pathology in 'familial cortical myoclonic tremor with epilepsy'.
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
Seizures during opioid anesthetic induction--are they opioid-induced rigidity?
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
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
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
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
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
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
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
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
Dentato-rubro-pallido-luysian atrophy: a clinico-pathological study.
Iizuka R, Hirayama K, Maehara KA
J Neurol Neurosurg Psychiatry 1984 Dec;47(12):1288-98. doi: 10.1136/jnnp.47.12.1288. PMID: 6512549Free PMC Article
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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