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Myoclonic tremor

MedGen UID:
1739193
•Concept ID:
C5421572
•
Disease or Syndrome
HPO: HP:0033054

Definition

A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyoclonic tremor

Conditions with this feature

Epilepsy, familial adult myoclonic, 6
MedGen UID:
1648448
•Concept ID:
C4748079
•
Disease or Syndrome
See: Condition Record
Epilepsy, familial adult myoclonic, 7
MedGen UID:
1648435
•Concept ID:
C4748080
•
Disease or Syndrome
See: Condition Record
Epilepsy, familial adult myoclonic, 6
Epilepsy, familial adult myoclonic, 7

Professional guidelines

PubMed

Current treatment options for familial adult myoclonus epilepsy.
Coppola A, Dubbioso R, Cuccurullo C, Licchetta L, Carreno M, Hirsch E, Bilo L
Epilepsia 2023 Jun;64 Suppl 1:S58-S63. Epub 2023 Apr 4 doi: 10.1111/epi.17590. PMID: 36947106
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M, Tolve M, Artiola C, Bove R, Carducci C, Carducci C, Angeloni A, Pisani F, Leuzzi V
Genes (Basel) 2023 Jan 19;14(2) doi: 10.3390/genes14020263. PMID: 36833190Free PMC Article
Differential diagnosis of familial adult myoclonic epilepsy.
Baykan B, Franceschetti S, Canafoglia L, Cavalleri GL, Michelucci R, Scheffer IE
Epilepsia 2023 Jun;64 Suppl 1:S52-S57. Epub 2023 Feb 21 doi: 10.1111/epi.17536. PMID: 36751956

Recent clinical studies

Etiology

Altered Cerebello-Motor Network in Familial Cortical Myoclonic Tremor With Epilepsy Type 1.
Wang B, Wang J, Cen Z, Wei W, Xie F, Chen Y, Sun H, Hu Y, Yang D, Lou Y, Chen X, Ouyang Z, Chen S, Wang H, Wang L, Wang S, Qiu X, Ding Y, Yin H, Wu S, Zhang B, Zang YF, Luo W
Mov Disord 2020 Jun;35(6):1012-1020. Epub 2020 Mar 4 doi: 10.1002/mds.28014. PMID: 32129927
Familial cortical myoclonic tremor and epilepsy: Description of a new South African pedigree with 30 year follow up.
van Coller R, van Rootselaar AF, Schutte C, van der Meyden CH
Parkinsonism Relat Disord 2017 May;38:35-40. Epub 2017 Feb 21 doi: 10.1016/j.parkreldis.2017.02.016. PMID: 28237853
Decreased cerebellar fiber density in cortical myoclonic tremor but not in essential tremor.
Buijink AW, Caan MW, Tijssen MA, Hoogduin JM, Maurits NM, van Rootselaar AF
Cerebellum 2013 Apr;12(2):199-204. doi: 10.1007/s12311-012-0414-2. PMID: 22961557
Cortical tremor (FCMTE: familial cortical myoclonic tremor with epilepsy).
Regragui W, Gerdelat-Mas A, Simonetta-Moreau M
Neurophysiol Clin 2006 Sep-Dec;36(5-6):345-9. Epub 2007 Jan 19 doi: 10.1016/j.neucli.2006.12.005. PMID: 17336780
Coherence analysis differentiates between cortical myoclonic tremor and essential tremor.
van Rootselaar AF, Maurits NM, Koelman JH, van der Hoeven JH, Bour LJ, Leenders KL, Brown P, Tijssen MA
Mov Disord 2006 Feb;21(2):215-22. doi: 10.1002/mds.20703. PMID: 16200541

Diagnosis

Familial adult myoclonus epilepsy: a pragmatic approach.
Cherian A, Divya KP, Krishnan ARS
Acta Neurol Belg 2024 Apr;124(2):389-394. Epub 2023 Dec 19 doi: 10.1007/s13760-023-02432-6. PMID: 38114875
Seizures and electrophysiological features in familial cortical myoclonic tremor with epilepsy 1.
Ding Y, Cen Z, Zheng Y, Qiu X, Ye Y, Chen X, Hu L, Wang B, Wang Z, Yin H, Shen C, Ming W, Ge Y, Xie F, Yang D, Ouyang Z, Wang H, Wu S, Ding M, Wang S, Luo W
Ann Clin Transl Neurol 2024 Feb;11(2):414-423. Epub 2023 Dec 7 doi: 10.1002/acn3.51961. PMID: 38059543Free PMC Article
Directionality of corticomuscular coupling in essential tremor and cortical myoclonic tremor.
Sharifi S, Luft F, Potgieter S, Heida T, Mugge W, Schouten AC, Bour LJ, van Rootselaar AF
Clin Neurophysiol 2021 Aug;132(8):1878-1886. Epub 2021 May 8 doi: 10.1016/j.clinph.2021.04.011. PMID: 34147924
Characteristics of visual sensitivity in familial cortical myoclonic tremor and epilepsy.
Wang X, Wang B, Wang J, Zhang W, Zhu J, Cao Y, Liu Y
Epileptic Disord 2021 Apr 1;23(2):366-375. doi: 10.1684/epd.2021.1278. PMID: 33935025
Unravelling the enigma of cortical tremor and other forms of cortical myoclonus.
Latorre A, Rocchi L, Magrinelli F, Mulroy E, Berardelli A, Rothwell JC, Bhatia KP
Brain 2020 Sep 1;143(9):2653-2663. doi: 10.1093/brain/awaa129. PMID: 32417917

Therapy

Long-standing myoclonic hand tremor as an isolated symptom of hypertrophic olivary degeneration.
Budrewicz S, Koszewicz M, Konieczna P, Zimny A
Clin Neurol Neurosurg 2023 Sep;232:107871. Epub 2023 Jul 3 doi: 10.1016/j.clineuro.2023.107871. PMID: 37413873
Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion.
Zhou Y, Sood R, Wang Q, Carrington B, Park M, Young AC, Birnbaum D, Liu Z, Ashizawa T, Mullikin JC, Koubeissi MZ, Liu P
Epilepsia Open 2021 Mar;6(1):102-111. Epub 2021 Feb 2 doi: 10.1002/epi4.12450. PMID: 33681653Free PMC Article
Decreased cortical inhibition and yet cerebellar pathology in 'familial cortical myoclonic tremor with epilepsy'.
van Rootselaar AF, van der Salm SM, Bour LJ, Edwards MJ, Brown P, Aronica E, Rozemuller-Kwakkel JM, Koehler PJ, Koelman JH, Rothwell JC, Tijssen MA
Mov Disord 2007 Dec;22(16):2378-85. doi: 10.1002/mds.21738. PMID: 17894334
Cortical tremor (FCMTE: familial cortical myoclonic tremor with epilepsy).
Regragui W, Gerdelat-Mas A, Simonetta-Moreau M
Neurophysiol Clin 2006 Sep-Dec;36(5-6):345-9. Epub 2007 Jan 19 doi: 10.1016/j.neucli.2006.12.005. PMID: 17336780
Familial cortical myoclonic tremor as a unique form of cortical reflex myoclonus.
Terada K, Ikeda A, Mima T, Kimura M, Nagahama Y, Kamioka Y, Murone I, Kimura J, Shibasaki H
Mov Disord 1997 May;12(3):370-7. doi: 10.1002/mds.870120316. PMID: 9159732

Prognosis

Seizures and electrophysiological features in familial cortical myoclonic tremor with epilepsy 1.
Ding Y, Cen Z, Zheng Y, Qiu X, Ye Y, Chen X, Hu L, Wang B, Wang Z, Yin H, Shen C, Ming W, Ge Y, Xie F, Yang D, Ouyang Z, Wang H, Wu S, Ding M, Wang S, Luo W
Ann Clin Transl Neurol 2024 Feb;11(2):414-423. Epub 2023 Dec 7 doi: 10.1002/acn3.51961. PMID: 38059543Free PMC Article
Familial adult myoclonus epilepsy: Clinical findings, disease course, and comorbidities.
Giraldez BG, Serratosa JM, Striano S, Ikeda A, Striano P, Coppola A
Epilepsia 2023 Jun;64 Suppl 1:S9-S13. Epub 2023 Apr 7 doi: 10.1111/epi.17595. PMID: 36994678
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G
Brain 2022 May 24;145(4):1519-1534. doi: 10.1093/brain/awab407. PMID: 34788392
Comprehensive genetic, clinical and electrophysiological studies of familial cortical myoclonic tremor with epilepsy 1 highlight the role of gene configurations.
Pan S, Li X, Li L, Lin H, Wang D, Zhang X, Zhao X, Ye J, Huang Z, Lin Y, Duan Y, Ma R, Gao L, Wang C, Wang Y
Seizure 2021 Apr;87:69-74. Epub 2021 Feb 23 doi: 10.1016/j.seizure.2021.02.026. PMID: 33721773
Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.
van den Ende T, Sharifi S, van der Salm SMA, van Rootselaar AF
Tremor Other Hyperkinet Mov (N Y) 2018;8:503. Epub 2018 Jan 23 doi: 10.7916/D85155WJ. PMID: 29416935Free PMC Article

Clinical prediction guides

Aberrant visual-related networks in familial cortical myoclonic tremor with epilepsy.
Wang H, Wang B, Cen Z, Wang J, Zang YF, Yang D, Ding Y, Wang S, Wu S, Luo W
Parkinsonism Relat Disord 2022 Aug;101:105-110. Epub 2022 Jul 19 doi: 10.1016/j.parkreldis.2022.07.001. PMID: 35870251
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G
Brain 2022 May 24;145(4):1519-1534. doi: 10.1093/brain/awab407. PMID: 34788392
δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy.
van Rootselaar AF, Groffen AJ, de Vries B, Callenbach PMC, Santen GWE, Koelewijn S, Vijfhuizen LS, Buijink A, Tijssen MAJ, van den Maagdenberg AMJM
Neurology 2017 Dec 5;89(23):2341-2350. Epub 2017 Nov 10 doi: 10.1212/WNL.0000000000004709. PMID: 29127138
Familial cortical myoclonic tremor and epilepsy: Description of a new South African pedigree with 30 year follow up.
van Coller R, van Rootselaar AF, Schutte C, van der Meyden CH
Parkinsonism Relat Disord 2017 May;38:35-40. Epub 2017 Feb 21 doi: 10.1016/j.parkreldis.2017.02.016. PMID: 28237853
Cerebellar Atrophy in Cortical Myoclonic Tremor and Not in Hereditary Essential Tremor-a Voxel-Based Morphometry Study.
Buijink AW, Broersma M, van der Stouwe AM, Sharifi S, Tijssen MA, Speelman JD, Maurits NM, van Rootselaar AF
Cerebellum 2016 Dec;15(6):696-704. doi: 10.1007/s12311-015-0734-0. PMID: 26519379Free PMC Article

Recent systematic reviews

Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.
van den Ende T, Sharifi S, van der Salm SMA, van Rootselaar AF
Tremor Other Hyperkinet Mov (N Y) 2018;8:503. Epub 2018 Jan 23 doi: 10.7916/D85155WJ. PMID: 29416935Free PMC Article

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