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Limb myoclonus

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Limb myoclonus

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).
See: Condition Record
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).
See: Condition Record
Myoclonus, familial, 2
Spinocerebellar ataxia, autosomal recessive 32

Professional guidelines

PubMed

Utility of Clinical Features for the Diagnosis of Seizures in the Intensive Care Unit.
Schmitt SE
J Clin Neurophysiol 2017 Mar;34(2):158-161. doi: 10.1097/WNP.0000000000000335. PMID: 27571047

Recent clinical studies

Etiology

Further insights into anti-IgLON5 disease: a case with complex clinical presentation.
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
PNESSE 1: Psychogenic status and status epilepticus: Could they be distinguished retrospectively? A survey among neurologists.
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
Orthostatic myoclonus after brain tumor radiation: Insights from two lesional cases.
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
Utility of Clinical Features for the Diagnosis of Seizures in the Intensive Care Unit.
Schmitt SE
J Clin Neurophysiol 2017 Mar;34(2):158-161. doi: 10.1097/WNP.0000000000000335. PMID: 27571047
Effects of pedunculopontine nucleus area stimulation on gait disorders in Parkinson's disease.
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

Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report.
Kashiki T, Kido J, Momosaki K, Kusunoki S, Ozasa S, Nomura K, Imai-Okazaki A, Tsuruoka T, Murayama K, Koga Y, Nakamura K
Brain Dev 2022 Jan;44(1):56-62. Epub 2021 Aug 25 doi: 10.1016/j.braindev.2021.08.005. PMID: 34452803
Neurophysiolgical implications in sialidosis type 1: a case report.
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
PNESSE 1: Psychogenic status and status epilepticus: Could they be distinguished retrospectively? A survey among neurologists.
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
Stiff limb syndrome with lower limb myoclonus: A case report.
Zhang CG, Li LL, Feng YY, Chen J
Medicine (Baltimore) 2019 Dec;98(49):e18160. doi: 10.1097/MD.0000000000018160. PMID: 31804328Free PMC Article
Utility of Clinical Features for the Diagnosis of Seizures in the Intensive Care Unit.
Schmitt SE
J Clin Neurophysiol 2017 Mar;34(2):158-161. doi: 10.1097/WNP.0000000000000335. PMID: 27571047

Therapy

Stiff limb syndrome with lower limb myoclonus: A case report.
Zhang CG, Li LL, Feng YY, Chen J
Medicine (Baltimore) 2019 Dec;98(49):e18160. doi: 10.1097/MD.0000000000018160. PMID: 31804328Free PMC Article
Anti-GAD Antibody-associated Syndrome Presenting with Limb Myoclonus.
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
Orthostatic myoclonus after brain tumor radiation: Insights from two lesional cases.
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
Generalised electrographic seizures presenting as perioral myoclonia.
Dearborn JL, Kaplan PW
Epileptic Disord 2014 Mar;16(1):80-3. doi: 10.1684/epd.2014.0625. PMID: 24566349
Nonconvulsive status epilepticus associated with cephalosporins in patients with renal failure.
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

Prognosis

KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset.
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
PNESSE 1: Psychogenic status and status epilepticus: Could they be distinguished retrospectively? A survey among neurologists.
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
Familial fatal insomnia with atypical clinical features in a patient with D178N mutation and homozygosity for Met at codon 129 of the prion protein gene.
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
Glycine receptor antibody mediated Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM): a rare but treatable neurological syndrome.
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
Effects of pedunculopontine nucleus area stimulation on gait disorders in Parkinson's disease.
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

KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset.
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
PNESSE 1: Psychogenic status and status epilepticus: Could they be distinguished retrospectively? A survey among neurologists.
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
Report of progressive myoclonus ataxia (PMA) in two Chinese pedigrees.
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
Effects of pedunculopontine nucleus area stimulation on gait disorders in Parkinson's disease.
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
4-repeat tauopathy sharing pathological and biochemical features of corticobasal degeneration and progressive supranuclear palsy.
Katsuse O, Iseki E, Arai T, Akiyama H, Togo T, Uchikado H, Kato M, de Silva R, Lees A, Kosaka K
Acta Neuropathol 2003 Sep;106(3):251-60. Epub 2003 Jun 11 doi: 10.1007/s00401-003-0728-8. PMID: 12802605

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