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Hereditary essential tremor 1(ETM1)

MedGen UID:
349909
Concept ID:
C1860861
Disease or Syndrome
Synonyms: ETM1; Familial essential tremor; Tremor familial essential, 1
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): DRD3 (3q13.31)
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; and ETM5 (616736), caused by mutation in the TENM4 gene (610084) on chromosome 11q14. [from GTR]

Additional descriptions

From OMIM
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; and ETM5 (616736), caused by mutation in the TENM4 gene (610084) on chromosome 11q14.  http://www.omim.org/entry/190300
From GHR
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 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 the elderly. Some studies have suggested that people with essential tremor have a higher than average risk of developing neurological conditions including Parkinson disease or sensory problems such as hearing loss, especially in individuals whose tremor appears after age 65.  https://ghr.nlm.nih.gov/condition/essential-tremor

Clinical features

Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)
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

Recent clinical studies

Etiology

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
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

Sprenger FS, Wurster I, Seppi K, Stockner H, Scherfler C, Sojer M, Schmidauer C, Berg D, Poewe W
Mov Disord 2016 Apr;31(4):579-83. Epub 2016 Feb 19 doi: 10.1002/mds.26515. PMID: 26893155
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
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
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

Tam F, Huang Y, Schwartz ML, Schweizer TA, Hynynen K, Graham SJ
BMC Neurol 2017 Apr 17;17(1):74. doi: 10.1186/s12883-017-0856-8. PMID: 28412948Free PMC Article
Elias WJ, Lipsman N, Ondo WG, Ghanouni P, Kim YG, Lee W, Schwartz M, Hynynen K, Lozano AM, Shah BB, Huss D, Dallapiazza RF, Gwinn R, Witt J, Ro S, Eisenberg HM, Fishman PS, Gandhi D, Halpern CH, Chuang R, Butts Pauly K, Tierney TS, Hayes MT, Cosgrove GR, Yamaguchi T, Abe K, Taira T, Chang JW
N Engl J Med 2016 Aug 25;375(8):730-9. doi: 10.1056/NEJMoa1600159. PMID: 27557301
Chen T, Mirzadeh Z, Chapple K, Lambert M, Dhall R, Ponce FA
J Neurosurg 2016 Jun;124(6):1842-9. Epub 2015 Nov 27 doi: 10.3171/2015.6.JNS15526. PMID: 26613177
Buijink AW, van der Stouwe AM, Broersma M, Sharifi S, Groot PF, Speelman JD, Maurits NM, van Rootselaar AF
Brain 2015 Oct;138(Pt 10):2934-47. Epub 2015 Aug 5 doi: 10.1093/brain/awv225. PMID: 26248468
Ferrara J, Jankovic J
Paediatr Drugs 2009;11(5):293-307. doi: 10.2165/11316050-000000000-00000. PMID: 19725596

Prognosis

Cury RG, Fraix V, Castrioto A, Pérez Fernández MA, Krack P, Chabardes S, Seigneuret E, Alho EJL, Benabid AL, Moro E
Neurology 2017 Sep 26;89(13):1416-1423. Epub 2017 Aug 2 doi: 10.1212/WNL.0000000000004295. PMID: 28768840
Gibson WS, Jo HJ, Testini P, Cho S, Felmlee JP, Welker KM, Klassen BT, Min HK, Lee KH
Brain 2016 Aug;139(Pt 8):2198-210. Epub 2016 Jun 21 doi: 10.1093/brain/aww145. PMID: 27329768Free PMC Article
Sprenger FS, Wurster I, Seppi K, Stockner H, Scherfler C, Sojer M, Schmidauer C, Berg D, Poewe W
Mov Disord 2016 Apr;31(4):579-83. Epub 2016 Feb 19 doi: 10.1002/mds.26515. PMID: 26893155
Kim YE, Kim JS, Yang HJ, Yun JY, Kim HJ, Ehm G, Kim JM, Jeon BS
Cerebellum 2016 Apr;15(2):152-8. doi: 10.1007/s12311-015-0683-7. PMID: 26041074
Tinazzi M, Fasano A, Di Matteo A, Conte A, Bove F, Bovi T, Peretti A, Defazio G, Fiorio M, Berardelli A
Neurology 2013 Jan 1;80(1):76-84. Epub 2012 Dec 12 doi: 10.1212/WNL.0b013e31827b1a54. PMID: 23243072

Clinical prediction guides

Chen T, Mirzadeh Z, Chapple K, Lambert M, Dhall R, Ponce FA
J Neurosurg 2016 Jun;124(6):1842-9. Epub 2015 Nov 27 doi: 10.3171/2015.6.JNS15526. PMID: 26613177
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

Recent systematic reviews

Kang N, Cauraugh JH
PLoS One 2017;12(9):e0185462. Epub 2017 Sep 28 doi: 10.1371/journal.pone.0185462. PMID: 28957367Free PMC Article
Bruno E, Nicoletti A, Filippini G, Quattrocchi G, Colosimo C, Zappia M
Cochrane Database Syst Rev 2017 Aug 24;8:CD009684. doi: 10.1002/14651858.CD009684.pub2. PMID: 28836659
Bruno E, Nicoletti A, Quattrocchi G, Allegra R, Filippini G, Colosimo C, Zappia M
Cochrane Database Syst Rev 2017 Apr 14;4:CD009683. doi: 10.1002/14651858.CD009683.pub2. PMID: 28409827
Bruno E, Nicoletti A, Quattrocchi G, Filippini G, Colosimo C, Zappia M
Cochrane Database Syst Rev 2016 Oct 20;10:CD009682. doi: 10.1002/14651858.CD009682.pub2. PMID: 27763691
Chang KH, Wang SH, Chi CC
Medicine (Baltimore) 2015 Oct;94(43):e1809. doi: 10.1097/MD.0000000000001809. PMID: 26512577Free PMC Article

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