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Limb myoclonus

MedGen UID:
1368754
Concept ID:
C4477055
Sign or Symptom
Synonym: Myoclonus of limbs
 
HPO: HP:0045084

Term Hierarchy

Conditions with this feature

Myoclonus, familial, 2
MedGen UID:
1683864
Concept ID:
C5193056
Disease or Syndrome
Familial myoclonus-2 is an autosomal dominant neurologic condition characterized by childhood onset of isolated action-induced nonepileptic myoclonus affecting the upper limbs. The disorder is nonprogressive (Wagnon et al., 2018).
Spinocerebellar ataxia, autosomal recessive 32
MedGen UID:
1802496
Concept ID:
C5676978
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-32 (SCAR32) is a neurologic disorder characterized by the onset of gait ataxia in the second or third decades of life. The disorder is slowly progressive. Other classic features include upper limb ataxia, oculomotor signs, dysphagia, and dysarthria. Some patients may have hyper- or hypokinetic movement abnormalities. Brain imaging shows cerebellar atrophy (Rebelo et al., 2021).

Professional guidelines

PubMed

Schmitt SE
J Clin Neurophysiol 2017 Mar;34(2):158-161. doi: 10.1097/WNP.0000000000000335. PMID: 27571047

Recent clinical studies

Etiology

Pierro S, Verde F, Maranzano A, De Gobbi A, Colombo E, Doretti A, Messina S, Maderna L, Ratti A, Girotti F, Andreetta F, Silani V, Morelli C, Ticozzi N
BMC Neurol 2024 Sep 10;24(1):334. doi: 10.1186/s12883-024-03837-3. PMID: 39256712Free PMC Article
Kholi H, Bellier A, Vercueil L
Epilepsy Behav 2020 Jan;102:106665. Epub 2019 Nov 21 doi: 10.1016/j.yebeh.2019.106665. PMID: 31760202
Cutsforth-Gregory JK, Hammack JE, Matsumoto JY
Parkinsonism Relat Disord 2017 Aug;41:109-112. Epub 2017 Apr 26 doi: 10.1016/j.parkreldis.2017.04.015. PMID: 28457650
Schmitt SE
J Clin Neurophysiol 2017 Mar;34(2):158-161. doi: 10.1097/WNP.0000000000000335. PMID: 27571047
Ferraye MU, Debû B, Fraix V, Goetz L, Ardouin C, Yelnik J, Henry-Lagrange C, Seigneuret E, Piallat B, Krack P, Le Bas JF, Benabid AL, Chabardès S, Pollak P
Brain 2010 Jan;133(Pt 1):205-14. Epub 2009 Sep 22 doi: 10.1093/brain/awp229. PMID: 19773356

Diagnosis

Wang F, Lin L, Hu J, Zhang J, Wang K
Int J Neurosci 2022 Jun;132(6):589-592. Epub 2020 Oct 13 doi: 10.1080/00207454.2020.1829615. PMID: 32988250
Zimmern V, Riant F, Roze E, Ranza E, Lehmann-Horn F, de Bellescize J, Ville D, Lesca G, Korff CM
Neuropediatrics 2019 Oct;50(5):308-312. Epub 2019 Jun 21 doi: 10.1055/s-0039-1688410. PMID: 31226716
Manzke P, Grippe T, Tavares GL, Leal LC, Roze E, Apartis E, Maciel Dias R, Ferreira AGF
Tremor Other Hyperkinet Mov (N Y) 2018;8:590. Epub 2018 Nov 1 doi: 10.7916/D8NK4XVP. PMID: 30622836Free PMC Article
Schmitt SE
J Clin Neurophysiol 2017 Mar;34(2):158-161. doi: 10.1097/WNP.0000000000000335. PMID: 27571047
Dearborn JL, Kaplan PW
Epileptic Disord 2014 Mar;16(1):80-3. doi: 10.1684/epd.2014.0625. PMID: 24566349

Therapy

Zhang CG, Li LL, Feng YY, Chen J
Medicine (Baltimore) 2019 Dec;98(49):e18160. doi: 10.1097/MD.0000000000018160. PMID: 31804328Free PMC Article
Manzke P, Grippe T, Tavares GL, Leal LC, Roze E, Apartis E, Maciel Dias R, Ferreira AGF
Tremor Other Hyperkinet Mov (N Y) 2018;8:590. Epub 2018 Nov 1 doi: 10.7916/D8NK4XVP. PMID: 30622836Free PMC Article
Dearborn JL, Kaplan PW
Epileptic Disord 2014 Mar;16(1):80-3. doi: 10.1684/epd.2014.0625. PMID: 24566349
Martínez-Rodríguez JE, Barriga FJ, Santamaria J, Iranzo A, Pareja JA, Revilla M, dela Rosa CR
Am J Med 2001 Aug;111(2):115-9. doi: 10.1016/s0002-9343(01)00767-7. PMID: 11498064
Trevisani F, Tamé MR, Bernardi M, Tovoli C, Gasbarrini A, Panarelli M, Gasbarrini G
Dig Dis Sci 1993 Apr;38(4):752-6. doi: 10.1007/BF01316810. PMID: 8462375

Prognosis

Todisco M, Gana S, Cosentino G, Errichiello E, Arceri S, Avenali M, Valente EM, Alfonsi E
Parkinsonism Relat Disord 2020 Sep;78:129-133. Epub 2020 Aug 6 doi: 10.1016/j.parkreldis.2020.07.026. PMID: 32823241
Kholi H, Bellier A, Vercueil L
Epilepsy Behav 2020 Jan;102:106665. Epub 2019 Nov 21 doi: 10.1016/j.yebeh.2019.106665. PMID: 31760202
Sun L, Li X, Lin X, Yan F, Chen K, Xiao S
Prion 2015;9(3):228-35. doi: 10.1080/19336896.2015.1054601. PMID: 26074146Free PMC Article
Stern WM, Howard R, Chalmers RM, Woodhall MR, Waters P, Vincent A, Wickremaratchi MM
Pract Neurol 2014 Apr;14(2):123-7. Epub 2013 Apr 5 doi: 10.1136/practneurol-2013-000511. PMID: 23564494
Ferraye MU, Debû B, Fraix V, Goetz L, Ardouin C, Yelnik J, Henry-Lagrange C, Seigneuret E, Piallat B, Krack P, Le Bas JF, Benabid AL, Chabardès S, Pollak P
Brain 2010 Jan;133(Pt 1):205-14. Epub 2009 Sep 22 doi: 10.1093/brain/awp229. PMID: 19773356

Clinical prediction guides

Todisco M, Gana S, Cosentino G, Errichiello E, Arceri S, Avenali M, Valente EM, Alfonsi E
Parkinsonism Relat Disord 2020 Sep;78:129-133. Epub 2020 Aug 6 doi: 10.1016/j.parkreldis.2020.07.026. PMID: 32823241
Kholi H, Bellier A, Vercueil L
Epilepsy Behav 2020 Jan;102:106665. Epub 2019 Nov 21 doi: 10.1016/j.yebeh.2019.106665. PMID: 31760202
Sun L, Wu J, Liu C, Lin W
Neurol Res 2016 Oct;38(10):893-6. Epub 2016 Jun 24 doi: 10.1080/01616412.2016.1199297. PMID: 27342741
Sun L, Li X, Lin X, Yan F, Chen K, Xiao S
Prion 2015;9(3):228-35. doi: 10.1080/19336896.2015.1054601. PMID: 26074146Free PMC Article
Ferraye MU, Debû B, Fraix V, Goetz L, Ardouin C, Yelnik J, Henry-Lagrange C, Seigneuret E, Piallat B, Krack P, Le Bas JF, Benabid AL, Chabardès S, Pollak P
Brain 2010 Jan;133(Pt 1):205-14. Epub 2009 Sep 22 doi: 10.1093/brain/awp229. PMID: 19773356

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