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Tremor, hereditary essential, 1(ETM1)

MedGen UID:
349909
Concept ID:
C1860861
Disease or Syndrome
Synonyms: ETM1; Familial essential tremor; Tremor familial essential, 1
 
Gene (location): DRD3 (3q13.31)
 
Monarch Initiative: MONDO:0008590
OMIM®: 190300

Definition

Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997). Deng et al. (2007) provided a detailed review of the genetics of essential tremor. Genetic Heterogeneity of Essential Tremor Other forms of hereditary essential tremor include ETM2 (602134), mapped to chromosome 2p25-p22; ETM3 (611456), mapped to chromosome 6p23; ETM4 (614782), caused by mutation in the FUS gene (137070) on chromosome 16p11; ETM5 (616736), caused by mutation in the TENM4 gene (610084) on chromosome 11q14; and ETM6 (618866), caused by mutation in the NOTCH2NLC gene (618025) on chromosome 1q21. [from OMIM]

Additional description

From MedlinePlus Genetics
Essential tremor is a movement disorder that causes involuntary, rhythmic shaking (tremor), especially in the hands. It is distinguished from tremor that results from other disorders or known causes, such as Parkinson's disease or head trauma. Essential tremor usually occurs alone, without other neurological signs or symptoms. However, some experts think that essential tremor can include additional features, such as mild balance problems.

Essential tremor usually occurs with movements and can occur during many different types of activities, such as eating, drinking, or writing. Essential tremor can also occur when the muscles are opposing gravity, such as when the hands are extended. It is usually not evident at rest.

In addition to the hands and arms, muscles of the trunk, face, head, and neck may also exhibit tremor in this disorder; the legs and feet are less often involved. Head tremor may appear as a "yes-yes" or "no-no" movement while the affected individual is seated or standing. In some people with essential tremor, the tremor may affect the voice (vocal tremor).

Essential tremor does not shorten the lifespan. However, it may interfere with fine motor skills such as using eating utensils, writing, shaving, or applying makeup, and in some cases these and other activities of daily living can be greatly impaired. Symptoms of essential tremor may be aggravated by emotional stress, anxiety, fatigue, hunger, caffeine, cigarette smoking, or temperature extremes.

Essential tremor may appear at any age but is most common in older adults. Some studies have suggested that people with essential tremor have a higher than average risk of developing neurological conditions including Parkinson's disease or sensory problems such as hearing loss, especially in individuals whose tremor appears after age 65.  https://medlineplus.gov/genetics/condition/essential-tremor

Clinical features

From HPO
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Action tremor
MedGen UID:
65875
Concept ID:
C0234376
Sign or Symptom
A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
Postural tremor
MedGen UID:
66696
Concept ID:
C0234378
Sign or Symptom
A type of tremors that is triggered by holding a limb in a fixed position.
Hand tremor
MedGen UID:
68689
Concept ID:
C0239842
Finding
An unintentional, oscillating to-and-fro muscle movement affecting the hand.

Professional guidelines

PubMed

Ferrara J, Jankovic J
Paediatr Drugs 2009;11(5):293-307. doi: 10.2165/11316050-000000000-00000. PMID: 19725596

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
Jasinska-Myga B, Wider C
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S138-9. doi: 10.1016/S1353-8020(11)70043-8. PMID: 22166413
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
Ferrara J, Jankovic J
Paediatr Drugs 2009;11(5):293-307. doi: 10.2165/11316050-000000000-00000. PMID: 19725596

Diagnosis

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
Calvo NE, Ferrara JM
BMC Neurol 2021 Nov 22;21(1):457. doi: 10.1186/s12883-021-02486-0. PMID: 34809610Free 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
Jasinska-Myga B, Wider C
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S138-9. doi: 10.1016/S1353-8020(11)70043-8. PMID: 22166413
Ferrara J, Jankovic J
Paediatr Drugs 2009;11(5):293-307. doi: 10.2165/11316050-000000000-00000. PMID: 19725596

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
Wolters A, Walter U, Wittstock M, Benecke R
J Parkinsons Dis 2014;4(1):45-55. doi: 10.3233/JPD-130287. PMID: 24398659
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article
Ferrara J, Jankovic J
Paediatr Drugs 2009;11(5):293-307. doi: 10.2165/11316050-000000000-00000. PMID: 19725596
Quinn N, Critchley P, Marsden CD
Mov Disord 1987;2(2):73-91. doi: 10.1002/mds.870020201. PMID: 3504266

Prognosis

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
Semin Hematol 2002 Oct;39(4):249-62. doi: 10.1053/shem.2002.35638. PMID: 12382200
Schweinfurth JM, Billante M, Courey MS
Laryngoscope 2002 Feb;112(2):220-3. doi: 10.1097/00005537-200202000-00004. PMID: 11889373

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
Clark LN, Ye X, Liu X, Mirzozoda K, Louis ED
Parkinsonism Relat Disord 2015 Aug;21(8):943-7. Epub 2015 Jun 6 doi: 10.1016/j.parkreldis.2015.06.004. PMID: 26077168Free 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
Laučkaitė K, Rastenytė D, Šurkienė D, Vaidelytė B, Dambrauskaitė G, Sakalauskas A, Vaitkus A, Gleiznienė R
BMC Neurol 2014 Mar 22;14:54. doi: 10.1186/1471-2377-14-54. PMID: 24655437Free PMC Article

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