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Action myoclonus

MedGen UID:
155545
Concept ID:
C0751354
Sign or Symptom
Synonyms: Action Myoclonus; Myoclonus, Action
SNOMED CT: Action myoclonus (27572006)
 
HPO: HP:0034360

Definition

A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli. [from HPO]

Term Hierarchy

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

Conditions with this feature

COG8-congenital disorder of glycosylation
MedGen UID:
409971
Concept ID:
C1970021
Disease or Syndrome
Syndrome with characteristics of severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. So far, only two cases have been described. The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus.
Myoclonus, familial, 1
MedGen UID:
761667
Concept ID:
C3539916
Disease or Syndrome
Familial myoclonus-1 is an autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness (summary by Russell et al., 2012). Genetic Heterogeneity of Familial Myoclonus Also see MYOCL2 (618364), caused by mutation in the SCN8A gene (600702) on chromosome 12q13.
Progressive myoclonic epilepsy type 9
MedGen UID:
901242
Concept ID:
C4225289
Disease or Syndrome
A rare genetic neurological disorder with characteristics of childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts and simplified gyration (frontally).
Progressive myoclonic epilepsy type 8
MedGen UID:
1680582
Concept ID:
C5190825
Disease or Syndrome
Progressive myoclonic epilepsy-8 (EPM8) is a rare autosomal recessive form of progressive myoclonic epilepsy with phenotypic variability including ataxia and other movement disorders in addition to myoclonus (summary by Godeiro et al., 2018). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).

Professional guidelines

PubMed

Erdoğan S, Yalçın Çakmaklı G, Elibol B, Ceylaner S, Akbostancı MC
Acta Neurol Belg 2023 Dec;123(6):2441-2444. Epub 2023 Apr 29 doi: 10.1007/s13760-023-02269-z. PMID: 37119471
Riva A, Orsini A, Scala M, Taramasso V, Canafoglia L, d'Orsi G, Di Claudio MT, Avolio C, D'Aniello A, Elia M, Franceschetti S, Di Gennaro G, Bisulli F, Tinuper P, Tappatà M, Romeo A, Freri E, Marini C, Costa C, Sofia V, Ferlazzo E, Magaudda A, Veggiotti P, Gennaro E, Pistorio A, Minetti C, Bianchi A, Striano S, Michelucci R, Zara F, Minassian BA, Striano P; Italian League Against Epilepsy Genetic Commission
J Neurol Sci 2021 May 15;424:117409. Epub 2021 Mar 20 doi: 10.1016/j.jns.2021.117409. PMID: 33773408Free PMC Article
Franceschetti S, Visani E, Rossi Sebastiano D, Duran D, Granata T, Solazzi R, Varotto G, Canafoglia L, Panzica F
Clin Neurophysiol 2021 May;132(5):1057-1063. Epub 2021 Feb 20 doi: 10.1016/j.clinph.2021.01.018. PMID: 33756404

Recent clinical studies

Etiology

Simpson HD, Duffy JR, Stierwalt JAG, Ahlskog JE, Hassan A
Parkinsonism Relat Disord 2022 May;98:41-46. Epub 2022 Apr 14 doi: 10.1016/j.parkreldis.2022.04.002. PMID: 35468498
Kälviäinen R
Semin Neurol 2015 Jun;35(3):293-9. Epub 2015 Jun 10 doi: 10.1055/s-0035-1552620. PMID: 26060909
Girard JM, Turnbull J, Ramachandran N, Minassian BA
Handb Clin Neurol 2013;113:1731-6. doi: 10.1016/B978-0-444-59565-2.00043-5. PMID: 23622396
Tassinari CA, Rubboli G, Parmeggiani L, Valzania F, Plasmati R, Riguzzi P, Michelucci R, Volpi L, Passarelli D, Meletti S
Adv Neurol 1995;67:181-97. PMID: 8848969
Lance JW
Adv Neurol 1986;43:33-55. PMID: 3080851

Diagnosis

Simpson HD, Duffy JR, Stierwalt JAG, Ahlskog JE, Hassan A
Parkinsonism Relat Disord 2022 May;98:41-46. Epub 2022 Apr 14 doi: 10.1016/j.parkreldis.2022.04.002. PMID: 35468498
Michelucci R, Pasini E, Riguzzi P, Andermann E, Kälviäinen R, Genton P
Epileptic Disord 2016 Sep 1;18(S2):145-153. doi: 10.1684/epd.2016.0861. PMID: 27629998
Kälviäinen R
Semin Neurol 2015 Jun;35(3):293-9. Epub 2015 Jun 10 doi: 10.1055/s-0035-1552620. PMID: 26060909
Girard JM, Turnbull J, Ramachandran N, Minassian BA
Handb Clin Neurol 2013;113:1731-6. doi: 10.1016/B978-0-444-59565-2.00043-5. PMID: 23622396
Tassinari CA, Rubboli G, Parmeggiani L, Valzania F, Plasmati R, Riguzzi P, Michelucci R, Volpi L, Passarelli D, Meletti S
Adv Neurol 1995;67:181-97. PMID: 8848969

Therapy

Marcellino C, Wijdicks EF
BMJ Case Rep 2020 Apr 16;13(4) doi: 10.1136/bcr-2020-234332. PMID: 32303528Free PMC Article
Michelucci R, Pasini E, Riguzzi P, Andermann E, Kälviäinen R, Genton P
Epileptic Disord 2016 Sep 1;18(S2):145-153. doi: 10.1684/epd.2016.0861. PMID: 27629998
Kälviäinen R, Genton P, Andermann E, Andermann F, Magaudda A, Frucht SJ, Schlit AF, Gerard D, de la Loge C, von Rosenstiel P
Epilepsia 2016 Feb;57(2):210-21. Epub 2015 Dec 15 doi: 10.1111/epi.13275. PMID: 26666500
Caviness JN, Evidente VG
Arch Neurol 2003 Mar;60(3):401-4. doi: 10.1001/archneur.60.3.401. PMID: 12633152
Obeso JA, Viteri C, Martínez Lage JM, Marsden CD
Adv Neurol 1986;43:225-30. PMID: 3946112

Prognosis

Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V
Brain 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. PMID: 34382076Free PMC Article
Michelucci R, Pasini E, Riguzzi P, Andermann E, Kälviäinen R, Genton P
Epileptic Disord 2016 Sep 1;18(S2):145-153. doi: 10.1684/epd.2016.0861. PMID: 27629998
Dibbens LM, Rubboli G
Epileptic Disord 2016 Sep 1;18(S2):111-114. doi: 10.1684/epd.2016.0848. PMID: 27618868
Dibbens L, Schwake M, Saftig P, Rubboli G
Epileptic Disord 2016 Sep 1;18(S2):63-72. doi: 10.1684/epd.2016.0843. PMID: 27582254
Kälviäinen R
Semin Neurol 2015 Jun;35(3):293-9. Epub 2015 Jun 10 doi: 10.1055/s-0035-1552620. PMID: 26060909

Clinical prediction guides

Sinokki A, Säisänen L, Hyppönen J, Silvennoinen K, Kälviäinen R, Mervaala E, Karjalainen PA, Rissanen SM
Clin Neurophysiol 2023 Dec;156:166-174. Epub 2023 Oct 26 doi: 10.1016/j.clinph.2023.10.005. PMID: 37952446
Álvarez Bravo G, Sánchez Cirera L, Angerri Nadal M, Ramió I Torrentà L
Neurol Sci 2022 Mar;43(3):1587-1592. Epub 2022 Jan 6 doi: 10.1007/s10072-021-05802-1. PMID: 34988717Free PMC Article
Vanegas MI, Marcé-Grau A, Martí-Sánchez L, Mellid S, Baide-Mairena H, Correa-Vela M, Cazurro A, Rodríguez C, Toledo L, Fernández-Ramos JA, Pons R, Aguilera-Albesa S, Martí MJ, Eiris J, Iglesias G, De Fabregues O, Maqueda E, Garriz-Luis M, Madruga M, Espinós C, Macaya A, Cabrera JC, Pérez-Dueñas B
Parkinsonism Relat Disord 2020 Nov;80:165-174. Epub 2020 Sep 21 doi: 10.1016/j.parkreldis.2020.09.023. PMID: 33022436
Canafoglia L, Ragona F, Panzica F, Piazza E, Freri E, Binelli S, Scaioli V, Avanzini G, Granata T, Franceschetti S
Epilepsy Res 2017 Feb;130:47-52. Epub 2017 Jan 19 doi: 10.1016/j.eplepsyres.2017.01.007. PMID: 28126647
Gaspar P, Kallemeijn WW, Strijland A, Scheij S, Van Eijk M, Aten J, Overkleeft HS, Balreira A, Zunke F, Schwake M, Sá Miranda C, Aerts JM
J Lipid Res 2014 Jan;55(1):138-45. Epub 2013 Nov 8 doi: 10.1194/jlr.M043802. PMID: 24212238Free PMC Article

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