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Cortical myoclonus

MedGen UID:
785503
Concept ID:
C3698239
Disease or Syndrome
Synonym: Cerebral cortex myoclonus
SNOMED CT: Cerebral cortex myoclonus (698835006); Cortical myoclonus (698835006)
 
HPO: HP:0040148

Definition

Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic). [from HPO]

Term Hierarchy

Conditions with this feature

Immunodeficiency 23
MedGen UID:
862808
Concept ID:
C4014371
Disease or Syndrome
IMD23 is an autosomal recessive primary immunodeficiency syndrome characterized by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity (summary by Bjorksten and Lundmark, 1976 and Zhang et al., 2014).

Professional guidelines

PubMed

Pena AB, Caviness JN
Neurotherapeutics 2020 Oct;17(4):1665-1680. doi: 10.1007/s13311-020-00922-6. PMID: 32910414Free PMC Article
Sutter R, Ristic A, Rüegg S, Fuhr P
Clin Neurophysiol 2016 Jan;127(1):67-80. Epub 2015 Aug 29 doi: 10.1016/j.clinph.2015.08.009. PMID: 26428447
Caviness JN
Neurotherapeutics 2014 Jan;11(1):188-200. doi: 10.1007/s13311-013-0216-3. PMID: 24037428Free PMC Article

Recent clinical studies

Etiology

Baykan B, Franceschetti S, Canafoglia L, Cavalleri GL, Michelucci R, Scheffer IE
Epilepsia 2023 Jun;64 Suppl 1:S52-S57. Epub 2023 Feb 21 doi: 10.1111/epi.17536. PMID: 36751956
Castellotti B, Canafoglia L, Freri E, Tappatà M, Messina G, Magri S, DiFrancesco JC, Fanella M, Di Bonaventura C, Morano A, Granata T, Gellera C, Franceschetti S, Michelucci R
Epilepsia Open 2023 Jun;8(2):645-650. Epub 2023 Feb 9 doi: 10.1002/epi4.12697. PMID: 36719163Free 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
Zutt R, Elting JW, van der Hoeven JH, Lange F, Tijssen MAJ
Clin Neurophysiol 2017 Jan;128(1):253-259. Epub 2016 Nov 16 doi: 10.1016/j.clinph.2016.10.093. PMID: 27940047
Caviness JN
Parkinsonism Relat Disord 2007;13 Suppl 3:S375-84. doi: 10.1016/S1353-8020(08)70033-6. PMID: 18267267

Diagnosis

Pena AB, Caviness JN
Neurotherapeutics 2020 Oct;17(4):1665-1680. doi: 10.1007/s13311-020-00922-6. PMID: 32910414Free PMC Article
Franceschetti S, Canafoglia L
Epileptic Disord 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. PMID: 27621198
Espay AJ, Chen R
Continuum (Minneap Minn) 2013 Oct;19(5 Movement Disorders):1264-86. doi: 10.1212/01.CON.0000436156.54532.1a. PMID: 24092290
Caviness JN, Truong DD
Handb Clin Neurol 2011;100:399-420. doi: 10.1016/B978-0-444-52014-2.00031-8. PMID: 21496598
Obeso JA
Clin Neurosci 1995-1996;3(4):253-7. PMID: 8891399

Therapy

Corniello C, Dono F, Evangelista G, Consoli S, De Angelis S, Cipollone S, Liviello D, Polito G, Melchiorre S, Russo M, Granzotto A, Anzellotti F, Onofrj M, Thomas A, Sensi SL
Seizure 2023 Jul;109:62-67. Epub 2023 May 21 doi: 10.1016/j.seizure.2023.05.017. PMID: 37267668
Pena AB, Caviness JN
Neurotherapeutics 2020 Oct;17(4):1665-1680. doi: 10.1007/s13311-020-00922-6. PMID: 32910414Free PMC Article
Caviness JN
Neurotherapeutics 2014 Jan;11(1):188-200. doi: 10.1007/s13311-013-0216-3. PMID: 24037428Free PMC Article
Espay AJ, Chen R
Continuum (Minneap Minn) 2013 Oct;19(5 Movement Disorders):1264-86. doi: 10.1212/01.CON.0000436156.54532.1a. PMID: 24092290
Rivest J
Can J Neurol Sci 2003 Mar;30 Suppl 1:S53-8. doi: 10.1017/s0317167100003243. PMID: 12691477

Prognosis

Baykan B, Franceschetti S, Canafoglia L, Cavalleri GL, Michelucci R, Scheffer IE
Epilepsia 2023 Jun;64 Suppl 1:S52-S57. Epub 2023 Feb 21 doi: 10.1111/epi.17536. PMID: 36751956
Zutt R, Elting JW, van Zijl JC, van der Hoeven JH, Roosendaal CM, Gelauff JM, Peall KJ, Tijssen MAJ
Neurology 2018 Feb 20;90(8):e647-e657. Epub 2018 Jan 19 doi: 10.1212/WNL.0000000000004996. PMID: 29352095Free PMC Article
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
Avanzini G, Shibasaki H, Rubboli G, Canafoglia L, Panzica F, Franceschetti S, Hallett M
Epileptic Disord 2016 Sep 1;18(S2):11-27. doi: 10.1684/epd.2016.0835. PMID: 27702708
Sutter R, Ristic A, Rüegg S, Fuhr P
Clin Neurophysiol 2016 Jan;127(1):67-80. Epub 2015 Aug 29 doi: 10.1016/j.clinph.2015.08.009. PMID: 26428447

Clinical prediction guides

Latorre A, Belvisi D, Rothwell JC, Bhatia KP, Rocchi L
Clin Neurophysiol 2023 Dec;156:125-139. Epub 2023 Oct 31 doi: 10.1016/j.clinph.2023.10.007. PMID: 37948946
Zutt R, Gelauff JM, Smit M, van Zijl JC, Stone J, Tijssen MAJ
Parkinsonism Relat Disord 2017 Dec;45:90-93. Epub 2017 Sep 29 doi: 10.1016/j.parkreldis.2017.09.023. PMID: 29032013
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
Franceschetti S, Canafoglia L
Epileptic Disord 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. PMID: 27621198
Caviness JN, Adler CH, Beach TG, Wetjen KL, Caselli RJ
Mov Disord 2002 Jul;17(4):657-62. doi: 10.1002/mds.10177. PMID: 12210853

Recent systematic reviews

Corniello C, Dono F, Evangelista G, Consoli S, De Angelis S, Cipollone S, Liviello D, Polito G, Melchiorre S, Russo M, Granzotto A, Anzellotti F, Onofrj M, Thomas A, Sensi SL
Seizure 2023 Jul;109:62-67. Epub 2023 May 21 doi: 10.1016/j.seizure.2023.05.017. PMID: 37267668
Nardone R, Versace V, Höller Y, Sebastianelli L, Brigo F, Lochner P, Golaszewski S, Saltuari L, Trinka E
Brain Res Bull 2018 Jun;140:258-269. Epub 2018 May 24 doi: 10.1016/j.brainresbull.2018.05.016. PMID: 29803873

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