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Eyelid myoclonus

MedGen UID:
148288
Concept ID:
C0751349
Disease or Syndrome
Synonyms: Eyelid Myoclonus; Myoclonus, Eyelid
 
HPO: HP:0025097

Definition

Marked, involuntary jerking of the eyelids. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEyelid myoclonus

Conditions with this feature

Myoclonic-astatic epilepsy
MedGen UID:
98284
Concept ID:
C0393702
Disease or Syndrome
A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component.
Autosomal recessive Parkinson disease 14
MedGen UID:
414488
Concept ID:
C2751842
Disease or Syndrome
Parkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.
Constitutional megaloblastic anemia with severe neurologic disease
MedGen UID:
462555
Concept ID:
C3151205
Disease or Syndrome
Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
MedGen UID:
1648354
Concept ID:
C4748041
Disease or Syndrome
Epilepsy, idiopathic generalized, susceptibility to, 15
MedGen UID:
1675524
Concept ID:
C5193050
Finding
Susceptibility to idiopathic generalized epilepsy-15 (EIG15) is an autosomal dominant seizure disorder characterized by onset of variable types of seizures in the first decade. Absence seizures are the most common manifestation, but most patients also develop other types, including clonic or generalized tonic-clonic seizures. EEG tends to show 3-Hz spike-wave discharges, whereas brain imaging is normal. The majority of patients also have developmental delay associated with impaired intellectual development apparent from infancy or early childhood (summary by Rudolf et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see EIG (600669).
Developmental and epileptic encephalopathy 99
MedGen UID:
1794228
Concept ID:
C5562018
Disease or Syndrome
Developmental and epileptic encephalopathy-99 (DEE99) is characterized by onset of seizures in early childhood associated with global developmental delay and severely impaired intellectual development. Other features may include hypotonia, quadriparesis, nystagmus, and apnea. Brain imaging may be normal or show nonspecific and variable abnormalities, including cerebral atrophy and polymicrogyria. The severity is variable; some patients die of refractory status epilepticus (summary by Vetro et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Developmental and epileptic encephalopathy 103
MedGen UID:
1809962
Concept ID:
C5677002
Disease or Syndrome
Developmental and epileptic encephalopathy-103 (DEE103) is characterized by onset of various types of seizures in the first year of life, most of which are refractory to treatment. Affected individuals show global developmental delay with impaired intellectual development ranging from mild to severe. Additional features may include hypotonia, ataxia, and behavioral abnormalities, including autism and hyperactivity (Schwarz et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.

Professional guidelines

PubMed

Graus F, Vogrig A, Muñiz-Castrillo S, Antoine JG, Desestret V, Dubey D, Giometto B, Irani SR, Joubert B, Leypoldt F, McKeon A, Prüss H, Psimaras D, Thomas L, Titulaer MJ, Vedeler CA, Verschuuren JJ, Dalmau J, Honnorat J
Neurol Neuroimmunol Neuroinflamm 2021 Jul;8(4) Epub 2021 May 18 doi: 10.1212/NXI.0000000000001014. PMID: 34006622Free PMC Article
Tater P, Pandey S
Neurol India 2021 Mar-Apr;69(2):272-283. doi: 10.4103/0028-3886.314574. PMID: 33904435
Mitoma H, Manto M, Hampe CS
Curr Neuropharmacol 2019;17(1):33-58. doi: 10.2174/1570159X16666180917105033. PMID: 30221603Free PMC Article

Recent clinical studies

Etiology

Calikusu FZ, Akkus S, Kochan Kizilkilic E, Poyraz BC, Altunç AT, Kiziltan G, Gunduz A
Clin Neurol Neurosurg 2023 Oct;233:107975. Epub 2023 Sep 17 doi: 10.1016/j.clineuro.2023.107975. PMID: 37734268
Xue J, Gong P, Yang H, Liu X, Jiang Y, Zhang Y, Yang Z
Sci Rep 2018 Apr 19;8(1):6254. doi: 10.1038/s41598-018-24644-0. PMID: 29674629Free PMC Article
Vaudano AE, Ruggieri A, Tondelli M, Avanzini P, Benuzzi F, Gessaroli G, Cantalupo G, Mastrangelo M, Vignoli A, Bonaventura CD, Canevini MP, Bernardina BD, Nichelli PF, Meletti S
Ann Neurol 2014 Sep;76(3):412-27. Epub 2014 Aug 11 doi: 10.1002/ana.24236. PMID: 25130932
Tsuda Y, Oguni H, Sakauchi M, Osawa M
Epilepsy Res 2013 Jan;103(1):88-96. Epub 2012 Jul 21 doi: 10.1016/j.eplepsyres.2012.07.010. PMID: 22824327

Diagnosis

Calikusu FZ, Akkus S, Kochan Kizilkilic E, Poyraz BC, Altunç AT, Kiziltan G, Gunduz A
Clin Neurol Neurosurg 2023 Oct;233:107975. Epub 2023 Sep 17 doi: 10.1016/j.clineuro.2023.107975. PMID: 37734268
Jiao J, Wang Y, Hou Y, Gao C, Shi H, Tian S
Neurogenetics 2023 Jul;24(3):201-208. Epub 2023 Jun 8 doi: 10.1007/s10048-023-00722-y. PMID: 37289317Free PMC Article
Xue J, Gong P, Yang H, Liu X, Jiang Y, Zhang Y, Yang Z
Sci Rep 2018 Apr 19;8(1):6254. doi: 10.1038/s41598-018-24644-0. PMID: 29674629Free PMC Article
Vaudano AE, Ruggieri A, Tondelli M, Avanzini P, Benuzzi F, Gessaroli G, Cantalupo G, Mastrangelo M, Vignoli A, Bonaventura CD, Canevini MP, Bernardina BD, Nichelli PF, Meletti S
Ann Neurol 2014 Sep;76(3):412-27. Epub 2014 Aug 11 doi: 10.1002/ana.24236. PMID: 25130932
Tsuda Y, Oguni H, Sakauchi M, Osawa M
Epilepsy Res 2013 Jan;103(1):88-96. Epub 2012 Jul 21 doi: 10.1016/j.eplepsyres.2012.07.010. PMID: 22824327

Therapy

Panayiotopoulos CP, Chroni E, Daskalopoulos C, Baker A, Rowlinson S, Walsh P
J Neurol Neurosurg Psychiatry 1992 Nov;55(11):1002-8. doi: 10.1136/jnnp.55.11.1002. PMID: 1469393Free PMC Article
Morimoto T, Hayakawa T, Sugie H, Awaya Y, Fukuyama Y
Epilepsia 1985 May-Jun;26(3):237-42. doi: 10.1111/j.1528-1157.1985.tb05412.x. PMID: 4006884

Clinical prediction guides

Vaudano AE, Ruggieri A, Tondelli M, Avanzini P, Benuzzi F, Gessaroli G, Cantalupo G, Mastrangelo M, Vignoli A, Bonaventura CD, Canevini MP, Bernardina BD, Nichelli PF, Meletti S
Ann Neurol 2014 Sep;76(3):412-27. Epub 2014 Aug 11 doi: 10.1002/ana.24236. PMID: 25130932

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