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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

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
Domingues FS, König E, Schwienbacher C, Volpato CB, Picard A, Cantaloni C, Mascalzoni D, Lackner P, Heimbach A, Hoffmann P, Stanzial F, Hicks AA, Parmeggiani L, Benedicenti F, Pellegrin S, Casara G, Pramstaller PP
Seizure 2019 Mar;66:81-85. Epub 2018 Dec 23 doi: 10.1016/j.seizure.2018.12.021. PMID: 30818181
Ince Gunal D, Agan K, Afsar N, Borucu D, Us O
J Clin Pharm Ther 2008 Apr;33(2):175-8. doi: 10.1111/j.1365-2710.2008.00901.x. PMID: 18315783
Okuma Y, Fujishima K, Miwa H, Mori H, Mizuno Y
Mov Disord 2005 Apr;20(4):451-456. doi: 10.1002/mds.20346. PMID: 15593313
Caviness JN, Adler CH, Newman S, Caselli RJ, Muenter MD
Mov Disord 1998 May;13(3):540-4. doi: 10.1002/mds.870130327. PMID: 9613750

Diagnosis

Franceschetti S, Canafoglia L
Epileptic Disord 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. PMID: 27621198
Muraga K, Suda S, Nagayama H, Okubo S, Abe A, Aoki J, Nogami A, Suzuki K, Sakamoto Y, Ueda M, Mishina M, Kimura K
Neurology 2016 Jan 19;86(3):307-9. Epub 2015 Dec 18 doi: 10.1212/WNL.0000000000002293. PMID: 26683641
Caviness JN, Truong DD
Handb Clin Neurol 2011;100:399-420. doi: 10.1016/B978-0-444-52014-2.00031-8. PMID: 21496598
van Gaalen J, Giunti P, van de Warrenburg BP
Mov Disord 2011 Apr;26(5):792-800. Epub 2011 Mar 2 doi: 10.1002/mds.23584. PMID: 21370272
Striano P, de Falco FA, Minetti C, Zara F
Epilepsia 2009 May;50 Suppl 5:37-40. doi: 10.1111/j.1528-1167.2009.02118.x. PMID: 19469844

Therapy

Guo Y, Xiao Y, Chen LF, Yin DH, Wang RD
J Int Med Res 2022 Feb;50(2):3000605211059933. doi: 10.1177/03000605211059933. PMID: 35220777Free PMC Article
Ragothaman M, Kulkarni G, Ashraf VV, Pal PK, Chickabasavaiah Y, Shankar SK, Govindappa SS, Satishchandra P, Muthane UB
Mov Disord 2007 Oct 15;22(13):1964-8. doi: 10.1002/mds.21641. PMID: 17708573
Winblad B
CNS Drug Rev 2005 Summer;11(2):169-82. doi: 10.1111/j.1527-3458.2005.tb00268.x. PMID: 16007238Free PMC Article
Matsunaga K, Uozumi T, Qingrui L, Hashimoto T, Tsuji S
Neurology 2001 Jan 23;56(2):279-80. doi: 10.1212/wnl.56.2.279. PMID: 11160978
Caviness JN, Adler CH, Newman S, Caselli RJ, Muenter MD
Mov Disord 1998 May;13(3):540-4. doi: 10.1002/mds.870130327. PMID: 9613750

Prognosis

van der Veen S, Eggink H, Elting JWJ, Sival D, Verschuuren-Bemelmans CC, de Koning TJ, Tijssen MAJ
Neurobiol Dis 2024 Sep;199:106555. Epub 2024 Jun 4 doi: 10.1016/j.nbd.2024.106555. PMID: 38844245
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
Caviness JN, Adler CH, Newman S, Caselli RJ, Muenter MD
Mov Disord 1998 May;13(3):540-4. doi: 10.1002/mds.870130327. PMID: 9613750

Clinical prediction guides

Domingues FS, König E, Schwienbacher C, Volpato CB, Picard A, Cantaloni C, Mascalzoni D, Lackner P, Heimbach A, Hoffmann P, Stanzial F, Hicks AA, Parmeggiani L, Benedicenti F, Pellegrin S, Casara G, Pramstaller PP
Seizure 2019 Mar;66:81-85. Epub 2018 Dec 23 doi: 10.1016/j.seizure.2018.12.021. PMID: 30818181
Franceschetti S, Canafoglia L
Epileptic Disord 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. PMID: 27621198
Mastrangelo M, Canafoglia L, Franceschetti S, Oppezzo C, Mosca F, Menni F, Parini R, Ciano C, Scaioli V, Panzica F
J Child Neurol 2008 Mar;23(3):321-4. Epub 2008 Jan 8 doi: 10.1177/0883073807308699. PMID: 18182648
Canafoglia L, Bugiani M, Uziel G, Dalla Bernardina B, Ciano C, Scaioli V, Avanzini G, Franceschetti S, Panzica F
Mov Disord 2006 Sep;21(9):1453-6. doi: 10.1002/mds.20984. PMID: 16755579
Caviness JN, Adler CH, Newman S, Caselli RJ, Muenter MD
Mov Disord 1998 May;13(3):540-4. doi: 10.1002/mds.870130327. PMID: 9613750

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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