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Tremor, hereditary essential, 2(ETM2)

MedGen UID:
356087
Concept ID:
C1865810
Disease or Syndrome
Synonym: ETM2
 
Monarch Initiative: MONDO:0011201
OMIM®: 602134

Clinical features

From HPO
Fatigue
MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Upper limb postural tremor
MedGen UID:
357212
Concept ID:
C1867138
Finding
A type of tremors that is triggered by holding an arm in a fixed position.
Kinetic tremor
MedGen UID:
1638576
Concept ID:
C4551521
Sign or Symptom
Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.

Recent clinical studies

Etiology

Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A
EBioMedicine 2024 Jan;99:104931. Epub 2023 Dec 27 doi: 10.1016/j.ebiom.2023.104931. PMID: 38150853Free PMC Article
Louis RJ, Lee M, Kuo SH, Vonsattel JP, Louis ED, Faust PL
Parkinsonism Relat Disord 2014 Nov;20(11):1270-3. Epub 2014 Sep 3 doi: 10.1016/j.parkreldis.2014.08.014. PMID: 25218844Free PMC Article
Puschmann A, Pfeiffer RF, Stoessl AJ, Kuriakose R, Lash JL, Searcy JA, Strongosky AJ, Vilariño-Güell C, Farrer MJ, Ross OA, Dickson DW, Wszolek ZK
Neurology 2011 May 10;76(19):1623-30. doi: 10.1212/WNL.0b013e318219fb42. PMID: 21555728Free PMC Article
Cardoso FE, Jankovic J
Muscle Nerve 1993 Sep;16(9):904-10. doi: 10.1002/mus.880160904. PMID: 8355721
Quinn N, Critchley P, Marsden CD
Mov Disord 1987;2(2):73-91. doi: 10.1002/mds.870020201. PMID: 3504266

Diagnosis

Quintas S, Sanles-Falagan R, Berbís MÁ
Mov Disord Clin Pract 2024 Jun;11(6):613-625. Epub 2024 May 1 doi: 10.1002/mdc3.14055. PMID: 38693679Free PMC Article
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A
EBioMedicine 2024 Jan;99:104931. Epub 2023 Dec 27 doi: 10.1016/j.ebiom.2023.104931. PMID: 38150853Free PMC Article
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
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article
Ponka P
Ann N Y Acad Sci 2004 Mar;1012:267-81. doi: 10.1196/annals.1306.022. PMID: 15105272

Therapy

Hashizume A, Fischbeck KH, Pennuto M, Fratta P, Katsuno M
J Neurol Neurosurg Psychiatry 2020 Oct;91(10):1085-1091. doi: 10.1136/jnnp-2020-322949. PMID: 32934110
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article
Schweinfurth JM, Billante M, Courey MS
Laryngoscope 2002 Feb;112(2):220-3. doi: 10.1097/00005537-200202000-00004. PMID: 11889373
Quinn N, Critchley P, Marsden CD
Mov Disord 1987;2(2):73-91. doi: 10.1002/mds.870020201. PMID: 3504266
Sutherland JM, Edwards VE, Eadie MJ
Med J Aust 1975 Jul 12;2(2):44-7. doi: 10.5694/j.1326-5377.1975.tb95098.x. PMID: 1160721

Prognosis

Quintas S, Sanles-Falagan R, Berbís MÁ
Mov Disord Clin Pract 2024 Jun;11(6):613-625. Epub 2024 May 1 doi: 10.1002/mdc3.14055. PMID: 38693679Free PMC Article
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article
Laučkaitė K, Rastenytė D, Šurkienė D, Vaitkus A, Sakalauskas A, Lukoševičius A, Gleiznienė R
BMC Neurol 2012 Mar 8;12:12. doi: 10.1186/1471-2377-12-12. PMID: 22400906Free PMC Article
Ponka P
Ann N Y Acad Sci 2004 Mar;1012:267-81. doi: 10.1196/annals.1306.022. PMID: 15105272
Ponka P
Semin Hematol 2002 Oct;39(4):249-62. doi: 10.1053/shem.2002.35638. PMID: 12382200

Clinical prediction guides

Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A
EBioMedicine 2024 Jan;99:104931. Epub 2023 Dec 27 doi: 10.1016/j.ebiom.2023.104931. PMID: 38150853Free PMC Article
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
Ponka P
Ann N Y Acad Sci 2004 Mar;1012:267-81. doi: 10.1196/annals.1306.022. PMID: 15105272
Ponka P
Semin Hematol 2002 Oct;39(4):249-62. doi: 10.1053/shem.2002.35638. PMID: 12382200
Cardoso FE, Jankovic J
Muscle Nerve 1993 Sep;16(9):904-10. doi: 10.1002/mus.880160904. PMID: 8355721

Recent systematic reviews

Quintas S, Sanles-Falagan R, Berbís MÁ
Mov Disord Clin Pract 2024 Jun;11(6):613-625. Epub 2024 May 1 doi: 10.1002/mdc3.14055. PMID: 38693679Free PMC Article

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