Myoclonus: Differential diagnosis and current management.

electroclinical features epilepsy myoclonus neurophysiology nosology

Journal

Epilepsia open
ISSN: 2470-9239
Titre abrégé: Epilepsia Open
Pays: United States
ID NLM: 101692036

Informations de publication

Date de publication:
09 Feb 2024
Historique:
revised: 28 01 2024
received: 24 10 2023
accepted: 30 01 2024
medline: 9 2 2024
pubmed: 9 2 2024
entrez: 9 2 2024
Statut: aheadofprint

Résumé

Myoclonus classically presents as a brief (10-50 ms duration), non-rhythmic jerk movement. The etiology could vary considerably ranging from self-limited to chronic or even progressive disorders, the latter falling into encephalopathic pictures that need a prompt diagnosis. Beyond the etiological classification, others evaluate myoclonus' body distribution (i.e., clinical classification) or the location of the generator (i.e., neurophysiological classification); particularly, knowing the anatomical source of myoclonus gives inputs on the observable clinical patterns, such as EMG bursts duration or EEG correlate, and guides the therapeutic choices. Among all the chronic disorders, myoclonus often presents itself as a manifestation of epilepsy. In this context, myoclonus has many facets. Myoclonus occurs as one, or the only, seizure manifestation while it can also present as a peculiar type of movement disorder; moreover, its electroclinical features within specific genetically determined epileptic syndromes have seldom been investigated. In this review, following a meeting of recognized experts, we provide an up-to-date overview of the neurophysiology and nosology surrounding myoclonus. Through the dedicated exploration of epileptic syndromes, coupled with pragmatic guidance, we aim to furnish clinicians and researchers alike with practical advice for heightened diagnostic management and refined treatment strategies. PLAIN LANGUAGE SUMMARY: In this work, we described myoclonus, a movement characterized by brief, shock-like jerks. Myoclonus could be present in different diseases and its correct diagnosis helps treatment.

Identifiants

pubmed: 38334331
doi: 10.1002/epi4.12917
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2024 The Authors. Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.

Références

Caviness JN, Brown P. Myoclonus: current concepts and recent advances. Lancet Neurol. 2004;3(10):598-607. https://doi.org/10.1016/S1474-4422(04)00880-4
Kojovic M, Cordivari C, Bhatia K. Myoclonic disorders: a practical approach for diagnosis and treatment. Ther Adv Neurol Disord. 2011;4(1):47-62. https://doi.org/10.1177/1756285610395653
Guerrini R, Takahashi T. Myoclonus and epilepsy. Handb Clin Neurol. 2013;111:667-679. https://doi.org/10.1016/B978-0-444-52891-9.00069-5
Caviness JN. Treatment of myoclonus. Neurotherapeutics. 2014;11(1):188-200. https://doi.org/10.1007/s13311-013-0216-3
Marsden CD, Hallet M, Fahn S. The nosology and pathophysiology of myoclonus. In: Marsden CD, Fahn S, editors. Movement disorders. London: Butterworth Scientific; 1981. p. 196-248.
Avanzini G, Shibasaki H, Rubboli G, Canafoglia L, Panzica F, Franceschetti S, et al. Neurophysiology of myoclonus and progressive myoclonus epilepsies. Epileptic Disord. 2016;18(S2):11-27. https://doi.org/10.1684/epd.2016.0835
Shibasaki H. Electrophysiologic studies of myoclonus. Muscle Nerve. 2000;23(3):321-335.
Erro R, Bhatia KP, Edwards MJ, Farmer SF, Cordivari C. Clinical diagnosis of propriospinal myoclonus is unreliable: an electrophysiologic study. Mov Disord. 2013;28(13):1868-1873. https://doi.org/10.1002/mds.25627
Hill AT, Briggs BA, Seneviratne U. Simultaneous recording of EEG and electromyographic polygraphy increases the diagnostic yield of video-EEG monitoring. J Clin Neurophysiol. 2014;31(3):203-207. https://doi.org/10.1097/WNP.0000000000000059
Dijk JM, Tijssen MA. Management of patients with myoclonus: available therapies and the need for an evidence-based approach. Lancet Neurol. 2010;9:1028-1036. https://doi.org/10.1016/S1474-4422(10)70193-9
Zutt R, van Egmond ME, Elting JW, van Laar PJ, Brouwer OF, Sival DA, et al. A novel diagnostic approach to patients with myoclonus. Nat Rev Neurol. 2015;11:687-697.
Caviness JN. Myoclonus. Continuum (MinneapMinn). 2019;25:1055-1080. https://doi.org/10.1212/CON.0000000000000750
Pena AB, Caviness JN. Physiology-based treatment of myoclonus. Neurotherapeutics. 2020;17:1665-1680. https://doi.org/10.1007/s13311-020-00922-6
Merchant SHI, Vial-Undurraga F, Leodori G, van Gerpen JA, Hallett M. Myoclonus: an electrophysiological diagnosis. Mov Disord Clin Pract. 2020;7:489-499. https://doi.org/10.1002/mdc3.12986
Shibasaki H, Hallett M. Electrophysiological studies of myoclonus. Muscle Nerve. 2005;31:157-174. https://doi.org/10.1002/mus.20234
Deuschl G, Ebner A, Hammers R, Lücking CH. Differences of cortical activation in spontaneous and reflex myoclonias. Electroencephalogr Clin Neurophysiol. 1991;80:326-328. https://doi.org/10.1016/0168-5597(91)90117-g
Kanouchi T, Yokota T, Kamata T, Ishii K, Senda M. Central pathway of photic reflex myoclonus. J NeurolNeurosurg Psychiatry. 1997;62:414-417. https://doi.org/10.1136/jnnp.62.4.414
Cassim F, Houdayer E. Neurophysiology of myoclonus. Neurophysiol Clin. 2006;36:281-291. https://doi.org/10.1016/j.neucli.2006.10.001
Hallett M. Physiology of human posthypoxic myoclonus. Mov Disord. 2000;15(suppl 1):8-13.
Michelucci R, Pasini E, Riguzzi P, Andermann E, Kälviäinen R, Genton P. Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials. Epileptic Disord. 2016;18(S2):145-153.
Ferlazzo E, Trenite DK, Haan GJ, Felix Nitschke F, Ahonen S, Gasparini S, et al. Update on pharmacological treatment of progressive myoclonus epilepsies. Curr Pharm des. 2017;23:5662-5666. https://doi.org/10.2174/1381612823666170809114654
Lagorio I, Zara F, Striano S, Striano P. Familial adult myoclonic epilepsy: a new expansion repeats disorder. Seizure. 2019;67:73-77. https://doi.org/10.1016/j.seizure.2019.03.009
Hallett M, Chadwick D, Adam J, Marsden CD. Reticular reflex myoclonus: a physiological type of human post-hypoxic myoclonus. J Neurol Neurosurg Psychiatry. 1977;40(3):253-264. https://doi.org/10.1136/jnnp.40.3.253
Brown P, Thompson PD, Rothwell JC, Day BL, Marsden CD. Axial myoclonus of propriospinal origin. Brain. 1991;114(pt 1A):197-214. https://doi.org/10.1093/oxfordjournals.brain.a101857
Antelmi E, Provini F. Propriospinal myoclonus: the spectrum of clinical and neurophysiological phenotypes. Sleep Med Rev. 2015;22:54-63. https://doi.org/10.1016/j.smrv.2014.10.007
Roze E, Apartis E, Clot F, Dorison N, Thobois S, Guyant-Marechal L, et al. Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. Neurology. 2008;70(13):1010-1016. https://doi.org/10.1212/01.wnl.0000297516.98574.c0
Oh SY, Kim JS, Dieterich M. Update on opsoclonus-myoclonus syndrome in adults. J Neurol. 2019;266:1541-1548. https://doi.org/10.1007/s00415-018-9138-7
Deuschl G, Mischke G, Schenck E, Schulte-Monting J, Lucking CH. Symptomatic and essential rhythmic palatal myoclonus. Brain. 1990;113:1645-1672.
Shin H-W, Ye BS, Kim J, Kim SM, Sohn YH. The contribution of a spinal mechanism in developing peripheral myoclonus: a case report. Mov Disord. 2007;22:1350-1352.
Safarpour Y, Vaziri ND, Jabbari B. Movement disroders in chronic kidney disease - a descriptive review. J Stroke Cerebrovasc Dis. 2021;30(9):105408. https://doi.org/10.1016/j.jstrokecerebrovasdis.2020.105408
Ser MH, Gündüz A, Demirbilek V, Yalçınkaya C, Nalbantoğlu M, Coşkun T, et al. Progression of myoclonus subtypes in subacute sclerosing panencephalitis. Neurophysiol Clin. 2021;51(6):533-540. https://doi.org/10.1016/j.neucli.2021.07.001
Freund B, Kaplan PW. Post-hypoxic myoclonus: differentiating benign and malignant etiologies in diagnosis and prognosis. Clin Neurophysiol Pract. 2017;2:98-102. https://doi.org/10.1016/j.cnp.2017.03.003
Janssen S, Bloem BR, van de Warrenburg BP. The clinical heterogeneity of drug-induced myoclonus: an illustrated review. J Neurol. 2017;264(8):1559-1566. https://doi.org/10.1007/s00415-016-8357-z
Binelli S, Agazzi P, Canafoglia L, Scaioli V, Panzica F, Visani E, et al. Myoclonus in Creutzfeldt-Jakob disease: polygraphic and video-electroencephalography assessment of 109 patients. Mov Disord. 2010;25(16):2818-2827. https://doi.org/10.1002/mds.23397
Rossi Sebastiano D, Soliveri P, Panzica F, Moroni I, Gellera C, Gilioli I, et al. Cortical myoclonus in childhood and juvenile-onset Huntington's disease. Parkinsonism Relat Disord. 2012;18(6):794-797. https://doi.org/10.1016/j.parkreldis.2012.03.011
Genton P, Striano P, Minassian BA. The history of progressive myoclonus epilepsies. Epileptic Disord. 2016;18(S2):3-10. https://doi.org/10.1684/epd.2016.0834
Marseille Consensus Group. Classification of progressive myoclonus epilepsies and related diseases. Ann Neurol. 1990;28:113-116.
Kälviäinen R. Progressive myoclonus epilepsies. Semin Neurol. 2015;35(3):293-299. https://doi.org/10.1055/s-0035-1552620
Koskiniemi M, Donner M, Majuri H, Haltia M, Norio R. Progressive myoclonus epilepsy. A clinical and histopathological study. Acta Neurol Scand. 1974;50(3):307-332.
Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, et al. The best evidence for progressive myoclonic epilepsy: a pathway to precision therapy. Seizure. 2019;71:247-257. https://doi.org/10.1016/j.seizure.2019.08.012
Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, et al. Progressive myoclonus epilepsies-residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. Am J Hum Genet. 2021;108(4):722-738. https://doi.org/10.1016/j.ajhg.2021.03.013
Canafoglia L, Franceschetti S, Gambardella A, Striano P, Giallonardo AT, Tinuper P, et al. Progressive myoclonus epilepsies: diagnostic yield with next-generation sequencing in previously unsolved cases. Neurol Genet. 2021;7(6):e641. https://doi.org/10.1212/NXG.0000000000000641
Franceschetti S, Michelucci R, Canafoglia L, Striano P, Gambardella A, Magaudda A, et al. Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology. 2014;82(5):405-411. https://doi.org/10.1212/WNL.0000000000000077
Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: position statement by the ILAE task force on nosology and definitions. Epilepsia. 2022;63(6):1349-1397. https://doi.org/10.1111/epi.17239
Guerrini R, Bonanni P, Parmeggiani L, Santucci M, Parmeggiani A, Sartucci F. Cortical reflex myoclonus in Rett syndrome. Ann Neurol. 1998;43:472-479.
d'Orsi G, Demaio V, Minervini MG. Myoclonic status misdiagnosed as movement disorders in Rett syndrome: a video-polygraphic study. Epilepsy Behav. 2009;15(2):260-262. https://doi.org/10.1016/j.yebeh.2009.03.033
Pollack SF, Grocott OR, Parkin KA, Larson AM, Thibert RL. Myoclonus Angelman syndrome. Epilepsy Behav. 2018;82:170-174. https://doi.org/10.1016/j.yebeh.2018.02.006
Ricci E, Bonfatti R, Rocca A, Sperti G, Cagnazzo V, Vignoli A, et al. Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian syndrome. Eur J Paediatr Neurol. 2019;23(4):653-656. https://doi.org/10.1016/j.ejpn.2019.05.012
d'Orsi G, Specchio LM, Apulian Study Group on Senile Myoclonic Epilepsy. Progressive myoclonus epilepsy in down syndrome patients with dementia. J Neurol. 2014;261(8):1584-1597. https://doi.org/10.1007/s00415-014-7376-x
Giraldez BG, Serratosa JM, Striano S, Ikeda A, Striano P, Coppola A. Familial adult myoclonus epilepsy: clinical findings, disease course, and comorbidities. Epilepsia. 2023;64(Suppl 1):S9-S13.
Corbett MA, Depienne C, Veneziano L, Klein KM, Brancati F, Guerrini R, et al. Genetics of familial adult myoclonus epilepsy: from linkage studies to noncoding repeat expansions. Epilepsia. 2023;64(Suppl 1):S14-S21.
Coppola A, Dubbioso R, Cuccurullo C, Licchetta L, Carreno M, Hirsch E, et al. Current treatment options for familial adult myoclonus epilepsy. Epilepsia. 2023;64(Suppl 1):S58-S63.
Caraballo RH, Capovilla G, Vigevano F, Beccaria F, Specchio N, Fejerman N. The spectrum of benign myoclonus of early infancy: clinical and neurophysiologic features in 102 patients. Epilepsia. 2009;50(5):1176-1183.
Capovilla G. Shaking body attacks: a new type of benign non-epileptic attack in infancy. Epileptic Disord. 2011;13(2):140-144.
Capovilla G, Montagnini A, Peruzzi C, Beccaria F. Head atonic attacks: a new type of benign non-epileptic attack in infancy strongly mimicking epilepsy. Epileptic Disord. 2013;15(1):44-48.
Menozzi E, Balint B, Latorre A, Valente EM, Rothwell JC, Bhatia KP. Twenty years on: myoclonus-dystonia and ε-sarcoglycan - neurodevelopment, channel, and signaling dysfunction. Mov Disord. 2019;34:1588-1601.
Genton P, Van Vleymen B. Piracetam and levetiracetam: close structural similarities but different pharmacological and clinical profiles. Epileptic Disord. 2000;2(2):99-105.
Ferlazzo E, Russo E, Mumoli L, Sueri C, Gasparini S, Palleria C, et al. Profile of brivaracetam and its potential in the treatment of epilepsy. Neuropsychiatric Dis Treat. 2015;11:2967-2973.
Houston DM, Chen E, Schusse CM. Use of brivaracetam in cases of acquired pathologic myoclonus. Abstract 2406. Aesnet.org
Chandak R, Gudlavalleti A, Medin K. Refractory myoclonus in lance Adams syndrome responding to Brivaracetam (P6.046). Neurology. 2018;90(15 Supplement).
Christe W, Jacob R, Janz D. Juvenile myoclonic epilepsy: response to valproate monotherapy in 27 previously untreated patients. Epilepsia. 1995;36(Suppl. 3):S65.
Calleja S, Sala-Puig J, Ribacoba R, Lahoz CH. Evolution of juvenile myoclonic epilepsy treated form the outset with sodium valproate. Seizure. 2001;10(6):424-427. https://doi.org/10.1053/seiz.2000.0530
Fonseca E, Guzmán L, Quintana M, Abraira L, Santamarina E, Salas-Puig X, et al. Efficacy, retention, and safety of brivaracetam in adult patients with genetic generalized epilepsy. Epilepsy Behav. 2020;102:106657. https://doi.org/10.1016/j.yebeh.2019.106657
Belli E, Del Prete E, Mazzucchi S, Frosini D, Siciliano G, Ceravolo R. Perampanel as a novel treatment for myoclonus in myoclonus-dystonia syndrome. P147. www.parkinsonlimpedismov.it
Clinicaltrials.gov
Kishnani P, Lachmann R, Mozaffar T, Walters C, Case L, Appleby M, et al. Safety and efficacy of VAL-1221, a novel fusion protein targeting cytoplasmic glucogen, in patients with late-onset Pompe disease. Mol Genet Metabol. 2019;126:S85-S86.
Minassian BA. Post-modern therapeutic approaches for progressive myoclonus epilepsy. Epileptic Disord. 2016;18(Suppl 2):154-158. https://doi.org/10.1684/epd.2016.0862
Riva A, Guglielmo A, Balagura G, Marchese F, Amadori E, Iacomino M, et al. Emerging treatments for progressive myoclonus epilepsies. Expert Rev Neurother. 2020;20(4):341-350. https://doi.org/10.1080/14737175.2020.1741350

Auteurs

Antonella Riva (A)

Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", Genoa, Italy.

Gianluca D'Onofrio (G)

Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", Genoa, Italy.

Edoardo Ferlazzo (E)

Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.
Regional Epilepsy Centre, Great Metropolitan "Bianchi-Melacrino-Morelli Hospital", Reggio Calabria, Italy.

Angelo Pascarella (A)

Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.
Regional Epilepsy Centre, Great Metropolitan "Bianchi-Melacrino-Morelli Hospital", Reggio Calabria, Italy.

Elena Pasini (E)

IRCCS-Istituto delle Scienze Neurologiche di Bologna, Unit of Neurology, Bellaria Hospital, Bologna, Italy.

Silvana Franceschetti (S)

Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologio Carlo Besta, Milan, Italy.

Ferruccio Panzica (F)

Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologio Carlo Besta, Milan, Italy.

Laura Canafoglia (L)

Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologio Carlo Besta, Milan, Italy.

Aglaia Vignoli (A)

Childhood and Adolescence Neurology and Psychiatry Unit, ASST GOM Niguarda, Health Sciences Department, Università degli Studi di Milano, Milano, Italy.

Antonietta Coppola (A)

Department of Neuroscience, Odontostomatology and Reproductive Sciences, Federico II University of Naples, Naples, Italy.

Valeria Badioni (V)

Neurology Unit, ASST Lodi, Lodi, Italy.

Francesca Beccaria (F)

ASST di Lodi, Lodi, Italy.

Angelo Labate (A)

Neurophysiology and Movement Disorders Unit, University of Messina, Messina, Italy.

Antonio Gambardella (A)

Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.

Antonino Romeo (A)

Pediatric Neurology Unit and Epilepsy Center, Department of Neuroscience, "Fatebenefratelli e Oftalmico" Hospital, Milano, Italy.

Giuseppe Capovilla (G)

Fondazione Poliambulanza, Brescia, Italy.

Roberto Michelucci (R)

IRCCS-Istituto delle Scienze Neurologiche di Bologna, Unit of Neurology, Bellaria Hospital, Bologna, Italy.

Pasquale Striano (P)

Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", Genoa, Italy.

Vincenzo Belcastro (V)

Neurology Unit, ASST Lodi, Lodi, Italy.

Classifications MeSH