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Erratic myoclonus

MedGen UID:
1370221
Concept ID:
C4476727
Sign or Symptom
Synonym: Fragmentary myoclonus
 
HPO: HP:0025357

Definition

A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous. [from HPO]

Term Hierarchy

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

Conditions with this feature

Developmental and epileptic encephalopathy, 1
MedGen UID:
483052
Concept ID:
C3463992
Disease or Syndrome
Developmental and epileptic encephalopathy-1 (DEE1) is a severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Approximately 75% of DEE1 patients progress to tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG (Kato et al., 2007). DEE1 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (DEE) to syndromic (309510) and nonsyndromic (300419) mental retardation. Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008). Reviews Deprez et al. (2009) reviewed the genetics of epilepsy syndromes starting in the first year of life and included a diagnostic algorithm. Genetic Heterogeneity of Developmental and Epileptic Encephalopathy Also see DEE2 (300672), caused by mutation in the CDKL5 gene (300203); DEE3 (609304), caused by mutation in the SLC25A22 gene (609302); DEE4 (612164), caused by mutation in the STXBP1 gene (602926); DEE5 (613477), caused by mutation in the SPTAN1 gene (182810); DEE6A (607208), also known as Dravet syndrome, caused by mutation in the SCN1A gene (182389); DEE6B (619317), also caused by mutation in the SCN1A gene; DEE7 (613720), caused by mutation in the KCNQ2 gene (602235); DEE8 (300607), caused by mutation in the ARHGEF9 gene (300429); DEE9 (300088), caused by mutation in the PCDH19 gene (300460); DEE10 (613402), caused by mutation in the PNKP gene (605610); DEE11 (613721), caused by mutation in the SCN2A gene (182390); DEE12 (613722), caused by mutation in the PLCB1 gene (607120); DEE13 (614558), caused by mutation in the SCN8A gene (600702); DEE14 (614959), caused by mutation in the KCNT1 gene (608167); DEE15 (615006), caused by mutation in the ST3GAL3 gene (606494); DEE16 (615338), caused by mutation in the TBC1D24 gene (613577); DEE17 (615473), caused by mutation in the GNAO1 gene (139311); DEE18 (615476), caused by mutation in the SZT2 gene (615463); DEE19 (615744), caused by mutation in the GABRA1 gene (137160); DEE20 (300868), caused by mutation in the PIGA gene (311770); DEE21 (615833), caused by mutation in the NECAP1 gene (611623); DEE22 (300896), caused by mutation in the SLC35A2 gene (314375); DEE23 (615859), caused by mutation in the DOCK7 gene (615730); DEE24 (615871), caused by mutation in the HCN1 gene (602780); DEE25 (615905), caused by mutation in the SLC13A5 gene (608305); DEE26 (616056), caused by mutation in the KCNB1 gene (600397); DEE27 (616139), caused by mutation in the GRIN2B gene (138252); DEE28 (616211), caused by mutation in the WWOX gene (605131); DEE29 (616339), caused by mutation in the AARS gene (601065); DEE30 (616341), caused by mutation in the SIK1 gene (605705); DEE31A (616346) and DEE31B (620352), caused by mutation in the DNM1 gene (602377); DEE32 (616366), caused by mutation in the KCNA2 gene (176262); DEE33 (616409), caused by mutation in the EEF1A2 gene (602959); DEE34 (616645), caused by mutation in the SLC12A5 gene (606726); DEE35 (616647), caused by mutation in the ITPA gene (147520); DEE36 (300884), caused by mutation in the ALG13 gene (300776); DEE37 (616981), caused by mutation in the FRRS1L gene (604574); DEE38 (617020), caused by mutation in the ARV1 gene (611647); DEE39 (612949), caused by mutation in the SLC25A12 gene (603667); DEE40 (617065), caused by mutation in the GUF1 gene (617064); DEE41 (617105), caused by mutation in the SLC1A2 gene (600300); DEE42 (617106), caused by mutation in the CACNA1A gene (601011); DEE43 (617113), caused by mutation in the GABRB3 gene (137192); DEE44 (617132), caused by mutation in the UBA5 gene (610552); DEE45 (617153), caused by mutation in the GABRB1 gene (137190); DEE46 (617162), caused by mutation in the GRIN2D gene (602717); DEE47 (617166), caused by mutation in the FGF12 gene (601513); DEE48 (617276), caused by mutation in the AP3B2 gene (602166); DEE49 (617281), caused by mutation in the DENND5A gene (617278); DEE50 (616457) caused by mutation in the CAD gene (114010); DEE51 (617339), caused by mutation in the MDH2 gene (154100); DEE52 (617350), caused by mutation in the SCN1B gene (600235); DEE53 (617389), caused by mutation in the SYNJ1 gene (604297); DEE54 (617391), caused by mutation in the HNRNPU gene (602869); DEE55 (617599), caused by mutation in the PIGP gene (605938); DEE56 (617665), caused by mutation in the YWHAG gene (605356); DEE57 (617771), caused by mutation in the KCNT2 gene (610044); DEE58 (617830), caused by mutation in the NTRK2 gene (600456); DEE59 (617904), caused by mutation in the GABBR2 gene (607340); DEE60 (617929), caused by mutation in the CNPY3 gene (610774); DEE61 (617933), caused by mutation in the ADAM22 gene (603709); DEE62 (617938), caused by mutation in the SCN3A gene (182391); DEE63 (617976), caused by mutation in the CPLX1 gene (605032); DEE64 (618004), caused by mutation in the RHOBTB2 gene (607352); DEE65 (618008), caused by mutation in the CYFIP2 gene (606323); DEE66 (618067), caused by mutation in the PACS2 gene (610423); DEE67 (618141), caused by mutation in the CUX2 gene (610648); DEE68 (618201), caused by mutation in the TRAK1 gene (608112); DEE69 (618285), caused by mutation in the CACNA1E gene (601013); DEE70 (618298) caused by mutation in the PHACTR1 gene (608723); DEE71 (618328), caused by mutation in the GLS gene (138280); DEE72 (618374), caused by mutation in the NEUROD2 gene (601725); DEE73 (618379), caused by mutation in the RNF13 gene (609247); DEE74 (618396), caused by mutation in the GABRG2 gene (137164); DEE75 (618437), caused by mutation in the PARS2 gene (612036); DEE76 (618468), caused by mutation in the ACTL6B gene (612458); DEE77 (618548), caused by mutation in the PIGQ gene (605754); DEE78 (618557), caused by mutation in the GABRA2 gene (137140); DEE79 (618559), caused by mutation in the GABRA5 gene (137142); DEE80 (618580), caused by mutation in the PIGB gene (604122); DEE81 (618663), caused by mutation in the DMXL2 gene (612186); DEE82 (618721), caused by mutation in the GOT2 gene (138150); DEE83 (618744), caused by mutation in the UGP2 gene (191760); DEE84 (618792), caused by mutation in the UGDH gene (603370); DEE85 (301044), caused by mutation in the SMC1A gene (300040); DEE86 (618910), caused by mutation in the DALRD3 gene (618904); DEE87 (618916), caused by mutation in the CDK19 gene (614720); DEE88 (618959), caused by mutation in the MDH1 gene (152400); DEE89 (619124), caused by mutation in the GAD1 gene (605363); DEE90 (301058), caused by mutation in the FGF13 gene (300070); DEE91 (617711), caused by mutation in the PPP3CA gene (114105); DEE92 (617829), caused by mutation in the GABRB2 gene (600232); DEE93 (618012), caused by mutation in the ATP6V1A gene (607027); DEE94 (615369), caused by mutation in the CHD2 gene (602119); DEE95 (618143), caused by mutation in the PIGS gene (610271); DEE96 (619340), caused by mutation in the NSF gene (601633); DEE97 (619561), caused by mutation in the iCELF2 gene (602538); DEE98 (619605), caused by mutation in the ATP1A2 gene (182340); DEE99 (619606), caused by mutation in the ATP1A3 gene (182350); DEE100 (619777), caused by mutation in the FBXO28 gene (609100); DEE101 (619814), caused by mutation in the GRIN1 gene (138249); DEE102 (619881), caused by mutation in the SLC38A3 gene (604437); DEE103 (619913), caused by mutation in the KCNC2 gene (176256); DEE104 (619970), caused by mutation in the ATP6V0A1 gene (192130); DEE105 (619983), caused by mutation in the HID1 gene (605752); DEE106 (620028), caused by mutation in the UFSP2 gene (611482); DEE107 (620033), caused by mutation in the NAPB gene (
Neurodevelopmental disorder with epilepsy and brain atrophy
MedGen UID:
1823957
Concept ID:
C5774184
Disease or Syndrome
Neurodevelopmental disorder with epilepsy and brain atrophy (NEDEBA) is an autosomal recessive disorder characterized by early-onset progressive myoclonus epilepsy with ataxia (summary by Bott et al., 2021).

Professional guidelines

PubMed

Wang PJ, Lee WT, Hwu WL, Young C, Yau KI, Shen YZ
Brain Dev 1998 Oct;20(7):530-5. doi: 10.1016/s0387-7604(98)00042-4. PMID: 9840674

Recent clinical studies

Etiology

Dulac O, Feingold J, Plouin P, Chiron C, Pajot N, Ponsot G
Epilepsia 1993 Jul-Aug;34(4):732-7. doi: 10.1111/j.1528-1157.1993.tb00454.x. PMID: 8330585
Otani K, Abe J, Futagi Y, Yabuuchi H, Aotani H, Takeuchi T
Brain Dev 1989;11(5):332-7. doi: 10.1016/s0387-7604(89)80064-6. PMID: 2510534

Diagnosis

Kosaka T, Ohta G, Kometani H, Kawatani M, Ohshima Y
Brain Dev 2019 Sep;41(8):717-720. Epub 2019 Apr 23 doi: 10.1016/j.braindev.2019.04.007. PMID: 31027651
Gataullina S, Lauer-Zillhardt J, Kaminska A, Galmiche-Rolland L, Bahi-Buisson N, Pontoizeau C, Ottolenghi C, Dulac O, Fallet-Bianco C
Neuropediatrics 2016 Dec;47(6):399-403. Epub 2016 Aug 14 doi: 10.1055/s-0036-1586222. PMID: 27522229
Kyllerman M
Handb Clin Neurol 2013;111:287-90. doi: 10.1016/B978-0-444-52891-9.00032-4. PMID: 23622177
Kamate M, Mahantshetti N, Chetal V
Indian Pediatr 2009 Sep;46(9):804-6. PMID: 19812426
Chen PT, Young C, Lee WT, Wang PJ, Peng SS, Shen YZ
Brain Dev 2001 Nov;23(7):715-20. doi: 10.1016/s0387-7604(01)00285-6. PMID: 11701284

Therapy

Kosaka T, Ohta G, Kometani H, Kawatani M, Ohshima Y
Brain Dev 2019 Sep;41(8):717-720. Epub 2019 Apr 23 doi: 10.1016/j.braindev.2019.04.007. PMID: 31027651
Chien YH, Lin MI, Weng WC, Du JC, Lee WT
J Formos Med Assoc 2012 May;111(5):290-4. Epub 2012 May 14 doi: 10.1016/j.jfma.2012.03.007. PMID: 22656400
Kamate M, Mahantshetti N, Chetal V
Indian Pediatr 2009 Sep;46(9):804-6. PMID: 19812426
Chen PT, Young C, Lee WT, Wang PJ, Peng SS, Shen YZ
Brain Dev 2001 Nov;23(7):715-20. doi: 10.1016/s0387-7604(01)00285-6. PMID: 11701284
Janszky J, Rásonyi G, Halász P, Olajos S, Perényi J, Szûcs A, Debreczeni T
Clin Neuropharmacol 2000 Mar-Apr;23(2):86-9. doi: 10.1097/00002826-200003000-00005. PMID: 10803798

Prognosis

Chen PT, Young C, Lee WT, Wang PJ, Peng SS, Shen YZ
Brain Dev 2001 Nov;23(7):715-20. doi: 10.1016/s0387-7604(01)00285-6. PMID: 11701284
Dulac O, Feingold J, Plouin P, Chiron C, Pajot N, Ponsot G
Epilepsia 1993 Jul-Aug;34(4):732-7. doi: 10.1111/j.1528-1157.1993.tb00454.x. PMID: 8330585
Otani K, Abe J, Futagi Y, Yabuuchi H, Aotani H, Takeuchi T
Brain Dev 1989;11(5):332-7. doi: 10.1016/s0387-7604(89)80064-6. PMID: 2510534

Clinical prediction guides

Chien YH, Lin MI, Weng WC, Du JC, Lee WT
J Formos Med Assoc 2012 May;111(5):290-4. Epub 2012 May 14 doi: 10.1016/j.jfma.2012.03.007. PMID: 22656400
Otani K, Abe J, Futagi Y, Yabuuchi H, Aotani H, Takeuchi T
Brain Dev 1989;11(5):332-7. doi: 10.1016/s0387-7604(89)80064-6. PMID: 2510534
Avanzini G, Bossi L, Caraceni T, Consolazione A, Franceschetti S, Negri S, Parati E
Monogr Neural Sci 1980;5:142-52. doi: 10.1159/000387497. PMID: 6976509

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