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Focal myoclonic seizure

MedGen UID:
869083
Concept ID:
C4023501
Disease or Syndrome
Synonyms: Focal myoclonic seizures; Focal onset myoclonic epileptic seizure; Focal onset myoclonic seizure; Focal-onset myoclonic epileptic seizure; Local myoclonic seizures; Localised myoclonic seizure; Localized myoclonic seizure; Partial myoclonic seizure; Partial myoclonic seizures; Segmental myoclonic seizure; Segmental myoclonic seizures
SNOMED CT: Focal myoclonic seizure (1259197000); Focal onset myoclonic epileptic seizure (1259197000); Focal-onset myoclonic epileptic seizure (1259197000); Focal onset myoclonic seizure (1259197000)
 
HPO: HP:0011166

Definition

A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFocal myoclonic seizure

Conditions with this feature

Progressive sclerosing poliodystrophy
MedGen UID:
60012
Concept ID:
C0205710
Disease or Syndrome
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").
Hermansky-Pudlak syndrome 10
MedGen UID:
934713
Concept ID:
C4310746
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.
Kohlschutter-Tonz syndrome-like
MedGen UID:
1781649
Concept ID:
C5543202
Disease or Syndrome
Den Hoed-de Boer-Voisin syndrome (DHDBV) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. The phenotype is reminiscent of Kohlschutter-Tonz syndrome (KTZS; 226750). More variable features of DHDBV include visual defects, behavioral abnormalities, and nonspecific involvement of other organ systems (summary by den Hoed et al., 2021).

Professional guidelines

PubMed

Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, Pressler R, Auvin S, Samia P, Hirsch E, Galicchio S, Triki C, Snead OC, Wiebe S, Cross JH, Tinuper P, Scheffer IE, Perucca E, Moshé SL, Nabbout R
Epilepsia 2022 Jun;63(6):1349-1397. Epub 2022 May 3 doi: 10.1111/epi.17239. PMID: 35503712
Espay AJ, Aybek S, Carson A, Edwards MJ, Goldstein LH, Hallett M, LaFaver K, LaFrance WC Jr, Lang AE, Nicholson T, Nielsen G, Reuber M, Voon V, Stone J, Morgante F
JAMA Neurol 2018 Sep 1;75(9):1132-1141. doi: 10.1001/jamaneurol.2018.1264. PMID: 29868890Free PMC Article
Ellul M, Solomon T
Clin Med (Lond) 2018 Mar;18(2):155-159. doi: 10.7861/clinmedicine.18-2-155. PMID: 29626021Free PMC Article

Recent clinical studies

Etiology

Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
Beniczky S, Tatum WO, Blumenfeld H, Stefan H, Mani J, Maillard L, Fahoum F, Vinayan KP, Mayor LC, Vlachou M, Seeck M, Ryvlin P, Kahane P
Epileptic Disord 2022 Jun 1;24(3):447-495. doi: 10.1684/epd.2022.1430. PMID: 35770761
Leguia MG, Andrzejak RG, Rummel C, Fan JM, Mirro EA, Tcheng TK, Rao VR, Baud MO
JAMA Neurol 2021 Apr 1;78(4):454-463. doi: 10.1001/jamaneurol.2020.5370. PMID: 33555292Free PMC Article
Thakran S, Guin D, Singh P, Singh P, Kukal S, Rawat C, Yadav S, Kushwaha SS, Srivastava AK, Hasija Y, Saso L, Ramachandran S, Kukreti R
Int J Mol Sci 2020 Oct 21;21(20) doi: 10.3390/ijms21207784. PMID: 33096746Free PMC Article
Bonini F, McGonigal A, Trébuchon A, Gavaret M, Bartolomei F, Giusiano B, Chauvel P
Epilepsia 2014 Feb;55(2):264-77. Epub 2013 Dec 24 doi: 10.1111/epi.12490. PMID: 24372328

Diagnosis

Beniczky S, Tatum WO, Blumenfeld H, Stefan H, Mani J, Maillard L, Fahoum F, Vinayan KP, Mayor LC, Vlachou M, Seeck M, Ryvlin P, Kahane P
Epileptic Disord 2022 Jun 1;24(3):447-495. doi: 10.1684/epd.2022.1430. PMID: 35770761
McGonigal A
J Neurol 2022 Jun;269(6):3363-3371. Epub 2022 Jan 10 doi: 10.1007/s00415-021-10949-0. PMID: 35006387
Chowdhury FA, Silva R, Whatley B, Walker MC
Pract Neurol 2021 Dec;21(6):481-491. Epub 2021 Aug 17 doi: 10.1136/practneurol-2019-002341. PMID: 34404748
Perucca P, Scheffer IE, Kiley M
Med J Aust 2018 Mar 19;208(5):226-233. doi: 10.5694/mja17.00951. PMID: 29540143
Fisher RS, Cross JH, French JA, Higurashi N, Hirsch E, Jansen FE, Lagae L, Moshé SL, Peltola J, Roulet Perez E, Scheffer IE, Zuberi SM
Epilepsia 2017 Apr;58(4):522-530. Epub 2017 Mar 8 doi: 10.1111/epi.13670. PMID: 28276060

Therapy

Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
Ioannou P, Foster DL, Sander JW, Dupont S, Gil-Nagel A, Drogon O'Flaherty E, Alvarez-Baron E, Medjedovic J
Brain Behav 2022 Sep;12(9):e2589. Epub 2022 Aug 26 doi: 10.1002/brb3.2589. PMID: 36017757Free PMC Article
Leguia MG, Andrzejak RG, Rummel C, Fan JM, Mirro EA, Tcheng TK, Rao VR, Baud MO
JAMA Neurol 2021 Apr 1;78(4):454-463. doi: 10.1001/jamaneurol.2020.5370. PMID: 33555292Free PMC Article
Rugg-Gunn F, Miserocchi A, McEvoy A
Pract Neurol 2020 Feb;20(1):4-14. Epub 2019 Aug 16 doi: 10.1136/practneurol-2019-002192. PMID: 31420415
Perucca P, Scheffer IE, Kiley M
Med J Aust 2018 Mar 19;208(5):226-233. doi: 10.5694/mja17.00951. PMID: 29540143

Prognosis

Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, Guerreiro M, Gwer S, Zuberi SM, Wilmshurst JM, Yozawitz E, Pressler R, Hirsch E, Wiebe S, Cross HJ, Perucca E, Moshé SL, Tinuper P, Auvin S
Epilepsia 2022 Jun;63(6):1398-1442. Epub 2022 May 3 doi: 10.1111/epi.17241. PMID: 35503717
McGonigal A
J Neurol 2022 Jun;269(6):3363-3371. Epub 2022 Jan 10 doi: 10.1007/s00415-021-10949-0. PMID: 35006387
Sultana B, Panzini MA, Veilleux Carpentier A, Comtois J, Rioux B, Gore G, Bauer PR, Kwon CS, Jetté N, Josephson CB, Keezer MR
Neurology 2021 Apr 27;96(17):805-817. Epub 2021 Mar 15 doi: 10.1212/WNL.0000000000011839. PMID: 33722992
Thakran S, Guin D, Singh P, Singh P, Kukal S, Rawat C, Yadav S, Kushwaha SS, Srivastava AK, Hasija Y, Saso L, Ramachandran S, Kukreti R
Int J Mol Sci 2020 Oct 21;21(20) doi: 10.3390/ijms21207784. PMID: 33096746Free PMC Article
Lin P, Tian X, Wang X
Seizure 2018 Oct;61:177-185. Epub 2018 Aug 12 doi: 10.1016/j.seizure.2018.08.010. PMID: 30179843

Clinical prediction guides

Bershteyn M, Bröer S, Parekh M, Maury Y, Havlicek S, Kriks S, Fuentealba L, Lee S, Zhou R, Subramanyam G, Sezan M, Sevilla ES, Blankenberger W, Spatazza J, Zhou L, Nethercott H, Traver D, Hampel P, Kim H, Watson M, Salter N, Nesterova A, Au W, Kriegstein A, Alvarez-Buylla A, Rubenstein J, Banik G, Bulfone A, Priest C, Nicholas CR
Cell Stem Cell 2023 Oct 5;30(10):1331-1350.e11. doi: 10.1016/j.stem.2023.08.013. PMID: 37802038Free PMC Article
Wu S, Nordli DR
Handb Clin Neurol 2023;196:295-304. doi: 10.1016/B978-0-323-98817-9.00014-4. PMID: 37620075
Fang Y, Si X, Wang J, Wang Z, Chen Y, Liu Y, Yan Y, Tian J, Zhang B, Pu J
Neurology 2023 Jul 25;101(4):e399-e409. Epub 2023 May 24 doi: 10.1212/WNL.0000000000207423. PMID: 37225432Free PMC Article
Wu TQ, Kaboodvand N, McGinn RJ, Veit M, Davey Z, Datta A, Graber KD, Meador KJ, Fisher R, Buch V, Parvizi J
Brain 2023 Jul 3;146(7):2792-2802. doi: 10.1093/brain/awad121. PMID: 37137813Free PMC Article
Thakran S, Guin D, Singh P, Singh P, Kukal S, Rawat C, Yadav S, Kushwaha SS, Srivastava AK, Hasija Y, Saso L, Ramachandran S, Kukreti R
Int J Mol Sci 2020 Oct 21;21(20) doi: 10.3390/ijms21207784. PMID: 33096746Free PMC Article

Recent systematic reviews

Gallo DM, Romero R, Bosco M, Gotsch F, Jaiman S, Jung E, Suksai M, Ramón Y Cajal CL, Yoon BH, Chaiworapongsa T
Am J Obstet Gynecol 2023 May;228(5S):S1158-S1178. Epub 2023 Apr 1 doi: 10.1016/j.ajog.2022.11.1283. PMID: 37012128Free PMC Article
Vetkas A, Fomenko A, Germann J, Sarica C, Iorio-Morin C, Samuel N, Yamamoto K, Milano V, Cheyuo C, Zemmar A, Elias G, Boutet A, Loh A, Santyr B, Gwun D, Tasserie J, Kalia SK, Lozano AM
Epilepsia 2022 Mar;63(3):513-524. Epub 2022 Jan 3 doi: 10.1111/epi.17157. PMID: 34981509
Sultana B, Panzini MA, Veilleux Carpentier A, Comtois J, Rioux B, Gore G, Bauer PR, Kwon CS, Jetté N, Josephson CB, Keezer MR
Neurology 2021 Apr 27;96(17):805-817. Epub 2021 Mar 15 doi: 10.1212/WNL.0000000000011839. PMID: 33722992
Payne LE, Gagnon DJ, Riker RR, Seder DB, Glisic EK, Morris JG, Fraser GL
Crit Care 2017 Nov 14;21(1):276. doi: 10.1186/s13054-017-1856-1. PMID: 29137682Free PMC Article
Mewasingh LD
BMJ Clin Evid 2014 Jan 31;2014 PMID: 24484859Free PMC Article

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