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Polymyoclonus, infantile

MedGen UID:
376647
Concept ID:
C1849731
Disease or Syndrome
Synonym: Infantile polymyoclonus
 
Monarch Initiative: MONDO:0009896
OMIM®: 263550

Clinical features

From HPO
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Irritability
MedGen UID:
397841
Concept ID:
C2700617
Mental Process
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
Chaotic rapid conjugate ocular movements
MedGen UID:
870463
Concept ID:
C4024909
Finding

Professional guidelines

PubMed

Costa C, Oliver KL, Calvello C, Cameron JM, Imperatore V, Tonelli L, Colavito D, Franceschetti S, Canafoglia L, Berkovic SF, Prontera P
Epilepsia 2023 Aug;64(8):e164-e169. Epub 2023 Mar 9 doi: 10.1111/epi.17557. PMID: 36810721
Maki Y, Kidokoro H, Okumura A, Yamamoto H, Nakata T, Fukasawa T, Kubota T, Kawaguchi M, Suzuki T, Tanaka M, Okai Y, Sakaguchi Y, Ohno A, Negoro T, Takahashi Y, Natsume J
Epilepsy Behav 2021 Aug;121(Pt A):108075. Epub 2021 May 30 doi: 10.1016/j.yebeh.2021.108075. PMID: 34077901
Gardella E, Møller RS
Epilepsia 2019 Dec;60 Suppl 3:S77-S85. doi: 10.1111/epi.16319. PMID: 31904124

Recent clinical studies

Etiology

Coppola A, Krithika S, Iacomino M, Bobbili D, Balestrini S, Bagnasco I, Bilo L, Buti D, Casellato S, Cuccurullo C, Ferlazzo E, Leu C, Giordano L, Gobbi G, Hernandez-Hernandez L, Lench N, Martins H, Meletti S, Messana T, Nigro V, Pinelli M, Pippucci T, Bellampalli R, Salis B, Sofia V, Striano P, Striano S, Tassi L, Vignoli A, Vaudano AE, Viri M, Scheffer IE, May P, Zara F, Sisodiya SM
Epilepsia 2024 Mar;65(3):779-791. Epub 2023 Dec 23 doi: 10.1111/epi.17859. PMID: 38088023
Costa C, Oliver KL, Calvello C, Cameron JM, Imperatore V, Tonelli L, Colavito D, Franceschetti S, Canafoglia L, Berkovic SF, Prontera P
Epilepsia 2023 Aug;64(8):e164-e169. Epub 2023 Mar 9 doi: 10.1111/epi.17557. PMID: 36810721
Devaraj R, Mahale RR, Sindhu DM, Stezin A, Kamble N, Holla VV, Netravathi M, Yadav R, Pal PK
Tremor Other Hyperkinet Mov (N Y) 2022;12:28. Epub 2022 Sep 8 doi: 10.5334/tohm.701. PMID: 36187872Free PMC Article
Gardella E, Marini C, Trivisano M, Fitzgerald MP, Alber M, Howell KB, Darra F, Siliquini S, Bölsterli BK, Masnada S, Pichiecchio A, Johannesen KM, Jepsen B, Fontana E, Anibaldi G, Russo S, Cogliati F, Montomoli M, Specchio N, Rubboli G, Veggiotti P, Beniczky S, Wolff M, Helbig I, Vigevano F, Scheffer IE, Guerrini R, Møller RS
Neurology 2018 Sep 18;91(12):e1112-e1124. Epub 2018 Aug 31 doi: 10.1212/WNL.0000000000006199. PMID: 30171078
Buchhalter JR
J Child Neurol 1994 Oct;9 Suppl 1:S12-9. doi: 10.1177/0883073894009001041. PMID: 7822747

Diagnosis

Pérez-Dueñas B, Gorman K, Marcé-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V, Kurian MA
Mov Disord 2022 Nov;37(11):2197-2209. Epub 2022 Aug 25 doi: 10.1002/mds.29182. PMID: 36054588Free PMC Article
Myers KA
Continuum (Minneap Minn) 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077. PMID: 35393962
Ghossein J, Pohl D
Epileptic Disord 2019 Dec 1;21(6):585-589. doi: 10.1684/epd.2019.1116. PMID: 31843733
Nagy E, Hollody K
Epileptic Disord 2019 Oct 1;21(5):458-462. doi: 10.1684/epd.2019.1098. PMID: 31649006
Franceschetti S, Canafoglia L
Epileptic Disord 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. PMID: 27621198

Therapy

Gataullina S, Dulac O
Seizure 2017 Jan;44:58-64. Epub 2016 Oct 21 doi: 10.1016/j.seizure.2016.10.014. PMID: 27817982
Nabbout R, Dulac O
J Clin Neurophysiol 2003 Nov-Dec;20(6):393-7. doi: 10.1097/00004691-200311000-00002. PMID: 14734929
Willmore LJ
Epilepsia 2001;42 Suppl 8:6-9. PMID: 11902328
Dulac O
Epilepsia 2001;42 Suppl 3:23-6. doi: 10.1046/j.1528-1157.2001.042suppl.3023.x. PMID: 11520318
Browne TR
Arch Neurol 1976 May;33(5):326-32. doi: 10.1001/archneur.1976.00500050012003. PMID: 817697

Prognosis

Novelli M, Galosi S, Zorzi G, Martinelli S, Capuano A, Nardecchia F, Granata T, Pollini L, Di Rocco M, Marras CE, Nardocci N, Leuzzi V
Parkinsonism Relat Disord 2023 Jun;111:105405. Epub 2023 Apr 29 doi: 10.1016/j.parkreldis.2023.105405. PMID: 37142469
Myers KA
Continuum (Minneap Minn) 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077. PMID: 35393962
Gataullina S, Dulac O
Seizure 2017 Jan;44:58-64. Epub 2016 Oct 21 doi: 10.1016/j.seizure.2016.10.014. PMID: 27817982
Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, Omer S, Ahmed M, Bennett C, Chakrabarty A, Tyagi A, Liu Y, Pencea N, Zhao X, Scherer SW, Ackerley CA, Minassian BA
Brain 2012 Sep;135(Pt 9):2684-98. doi: 10.1093/brain/aws205. PMID: 22961547Free PMC Article
Hrastovec A, Hostnik T, Neubauer D
Eur J Paediatr Neurol 2012 Jan;16(1):64-73. Epub 2011 Nov 23 doi: 10.1016/j.ejpn.2011.10.006. PMID: 22116015

Clinical prediction guides

van der Veen S, Tse GTW, Ferretti A, Garone G, Post B, Specchio N, Fung VSC, Trivisano M, Scheffer IE
Neurology 2023 Nov 7;101(19):e1884-e1892. Epub 2023 Sep 25 doi: 10.1212/WNL.0000000000207808. PMID: 37748886Free PMC Article
Pérez-Dueñas B, Gorman K, Marcé-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V, Kurian MA
Mov Disord 2022 Nov;37(11):2197-2209. Epub 2022 Aug 25 doi: 10.1002/mds.29182. PMID: 36054588Free PMC Article
Franceschetti S, Canafoglia L
Epileptic Disord 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. PMID: 27621198
Hrastovec A, Hostnik T, Neubauer D
Eur J Paediatr Neurol 2012 Jan;16(1):64-73. Epub 2011 Nov 23 doi: 10.1016/j.ejpn.2011.10.006. PMID: 22116015
Pareyson D, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, Girotti F, Gattellaro G, Carriero MR, Farina L, Ceccherini I, Savoiardo M
Brain 2008 Sep;131(Pt 9):2321-31. Epub 2008 Aug 6 doi: 10.1093/brain/awn178. PMID: 18684770

Recent systematic reviews

Traschütz A, van Gaalen J, Oosterloo M, Vreeburg M, Kamsteeg EJ, Deininger N, Rieß O, Reimold M, Haack T, Schöls L, van de Warrenburg BP, Synofzik M
Parkinsonism Relat Disord 2019 May;62:215-220. Epub 2018 Nov 29 doi: 10.1016/j.parkreldis.2018.11.027. PMID: 30522958

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