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Ataxia with fasciculations

MedGen UID:
400052
Concept ID:
C1862440
Disease or Syndrome
Synonym: Ataxia with Fasciculations
 
Monarch Initiative: MONDO:0007166
OMIM®: 108700

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).
Fasciculations
MedGen UID:
5124
Concept ID:
C0015644
Sign or Symptom
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.

Professional guidelines

PubMed

Mei XW, Burchardt J, Ranger TA, McDermott CJ, Radunovic A, Coupland C, Hippisley-Cox J
BMJ Open 2022 Jun 28;12(6):e058383. doi: 10.1136/bmjopen-2021-058383. PMID: 35768081Free PMC Article
Bradberry SM, Watt BE, Proudfoot AT, Vale JA
J Toxicol Clin Toxicol 2000;38(2):111-22. doi: 10.1081/clt-100100925. PMID: 10778907
Lima L, Coutinho P
Neurology 1980 Mar;30(3):319-22. doi: 10.1212/wnl.30.3.319. PMID: 7189034

Recent clinical studies

Etiology

Gazulla J, Ferrer I, Izquierdo-Alvarez S, Alvarez S, Sánchez-Alcudia R, Bestué-Cardiel M, Seral M, Benavente I, Sierra-Martínez E, Berciano J
J Neurol 2019 May;266(5):1079-1090. Epub 2019 Mar 5 doi: 10.1007/s00415-019-09235-x. PMID: 30834979
Rezende Filho FM, Vale TC, Pedroso JL, Braga-Neto P, Barsottini OG
J Neurol Sci 2019 Feb 15;397:138-140. Epub 2019 Jan 2 doi: 10.1016/j.jns.2019.01.001. PMID: 30616057
Vanhaesebrouck AE, Bhatti SF, Franklin RJ, Van Ham L
Vet J 2013 Aug;197(2):153-62. Epub 2013 Apr 11 doi: 10.1016/j.tvjl.2013.03.002. PMID: 23583699
França MC Jr, D'Abreu A, Nucci A, Lopes-Cendes I
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Newsom-Davis J
Acta Neurol Belg 2005 Dec;105(4):181-6. PMID: 16482866

Diagnosis

Ono Y, Tadokoro K, Yunoki T, Yamashita T, Sato D, Sato H, Akamatsu S, Mizukami H, Ohta Y, Yamano Y, Kimura A, Shimohata T
Parkinsonism Relat Disord 2024 Jul;124:106992. Epub 2024 Apr 30 doi: 10.1016/j.parkreldis.2024.106992. PMID: 38701719
Wenninger S
J Neuromuscul Dis 2017;4(4):337-339. doi: 10.3233/JND-170259. PMID: 29103046
Strupp M, Kremmyda O, Adamczyk C, Böttcher N, Muth C, Yip CW, Bremova T
J Neurol 2014 Sep;261 Suppl 2(Suppl 2):S542-58. doi: 10.1007/s00415-014-7385-9. PMID: 25145891Free PMC Article
Vanhaesebrouck AE, Bhatti SF, Franklin RJ, Van Ham L
Vet J 2013 Aug;197(2):153-62. Epub 2013 Apr 11 doi: 10.1016/j.tvjl.2013.03.002. PMID: 23583699
Riaz G, Campbell WW, Carr J, Ghatak N
Arch Neurol 1990 Apr;47(4):472-4. doi: 10.1001/archneur.1990.00530040130030. PMID: 2181981

Therapy

Nikolić AV, Lavrnić DV, Basta IZ, Nikolić DM, Apostolski SA
Vojnosanit Pregl 2015 Jul;72(7):639-41. doi: 10.2298/vsp131111039n. PMID: 26364459
Chan CH, Leung AK, Cheung YF, Chan PY, Yeung KW, Lai KY
Hong Kong Med J 2012 Aug;18(4):343-5. PMID: 22865182
Bradberry SM, Proudfoot AT, Vale JA
Toxicol Rev 2004;23(2):65-73. doi: 10.2165/00139709-200423020-00001. PMID: 15578861
Bradberry SM, Watt BE, Proudfoot AT, Vale JA
J Toxicol Clin Toxicol 2000;38(2):111-22. doi: 10.1081/clt-100100925. PMID: 10778907
Brunt ER, van Weerden TW
Brain 1990 Oct;113 ( Pt 5):1361-82. doi: 10.1093/brain/113.5.1361. PMID: 2245301

Prognosis

Wenninger S
J Neuromuscul Dis 2017;4(4):337-339. doi: 10.3233/JND-170259. PMID: 29103046
Nikolić AV, Lavrnić DV, Basta IZ, Nikolić DM, Apostolski SA
Vojnosanit Pregl 2015 Jul;72(7):639-41. doi: 10.2298/vsp131111039n. PMID: 26364459
Figura M, Gaweł M, Kolasa A, Janik P
Neurol Neurochir Pol 2014;48(5):368-72. Epub 2014 Sep 6 doi: 10.1016/j.pjnns.2014.08.003. PMID: 25440017
Strupp M, Kremmyda O, Adamczyk C, Böttcher N, Muth C, Yip CW, Bremova T
J Neurol 2014 Sep;261 Suppl 2(Suppl 2):S542-58. doi: 10.1007/s00415-014-7385-9. PMID: 25145891Free PMC Article
Bradberry SM, Watt BE, Proudfoot AT, Vale JA
J Toxicol Clin Toxicol 2000;38(2):111-22. doi: 10.1081/clt-100100925. PMID: 10778907

Clinical prediction guides

Fehér OE, Fehérvári P, Tolnai CH, Forgách P, Malik P, Jerzsele Á, Wagenhoffer Z, Szenci O, Korbacska-Kutasi O
Viruses 2022 Nov 18;14(11) doi: 10.3390/v14112551. PMID: 36423160Free PMC Article
Huin V, Coarelli G, Guemy C, Boluda S, Debs R, Mochel F, Stojkovic T, Grabli D, Maisonobe T, Gaymard B, Lenglet T, Tard C, Davion JB, Sablonnière B, Monin ML, Ewenczyk C, Viala K, Charles P, Le Ber I, Reilly MM, Houlden H, Cortese A, Seilhean D, Brice A, Durr A
Brain 2022 Jun 30;145(6):2121-2132. doi: 10.1093/brain/awab449. PMID: 34927205
Boonkongchuen P, Pongpakdee S, Jindahra P, Papsing C, Peerapatmongkol P, Wetchaphanphesat S, Paiboonpol S, Dejthevaporn C, Tanprawate S, Nudsasarn A, Jariengprasert C, Muntham D, Ingsathit A, Pulkes T
BMC Neurol 2014 Apr 5;14:75. doi: 10.1186/1471-2377-14-75. PMID: 24708620Free PMC Article
Ikeda Y, Ohta Y, Kobayashi H, Okamoto M, Takamatsu K, Ota T, Manabe Y, Okamoto K, Koizumi A, Abe K
Neurology 2012 Jul 24;79(4):333-41. Epub 2012 Jun 27 doi: 10.1212/WNL.0b013e318260436f. PMID: 22744658
Bradberry SM, Proudfoot AT, Vale JA
Toxicol Rev 2004;23(2):65-73. doi: 10.2165/00139709-200423020-00001. PMID: 15578861

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