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Essential tremor

Reviewed February 2008

What is essential tremor?

Essential tremor is a disorder of the nervous system that causes involuntary, rhythmic shaking (tremor), especially in the hands. It involves tremor without any other signs or symptoms, and is distinguished from tremor that results from other disorders or known causes, such as tremors seen with Parkinson disease or head trauma.

Essential tremor usually occurs when the muscles are opposing gravity, such as when the hands are extended, and worsens with movement. This type of tremor 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 not usually 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, voice quality may be affected.

Essential tremor is not considered a dangerous or debilitating condition, and it does not shorten the lifespan. If severe, however, it may interfere somewhat with fine motor skills such as using eating utensils, writing, shaving, or applying makeup. Symptoms of essential tremor may be aggravated by emotional stress, fatigue, hunger, caffeine, cigarette smoking, or extremes of temperature.

Essential tremor may appear at any age, but is most common in the elderly. Some studies have suggested that people with essential tremor may have a higher than average risk of developing Parkinson disease, sensory problems such as hearing loss, or other neurological conditions, while others suggest that essential tremor may be associated with increased longevity.

How common is essential tremor?

Essential tremor is a common disorder, affecting millions of people in the United States. Estimates of its prevalence vary widely because several other disorders, as well as certain medications and other factors, can result in similar tremors. Essential tremor may affect as many as 14 percent of people over the age of 65.

What genes are related to essential tremor?

Essential tremor is a complex disorder. Several genes are believed to help determine an individual's risk of developing this condition. Environmental factors may also be involved.

Some studies have found the DRD3 gene to be associated with essential tremor. The DRD3 gene provides instructions for making a protein called dopamine receptor D3, which is found in the brain. This protein responds to a chemical messenger (neurotransmitter) called dopamine to trigger signals within the nervous system, including signals involved in producing physical movement. A DRD3 variant seen in some families affected by essential tremor may cause the corresponding dopamine receptor D3 protein to respond more strongly to the neurotransmitter, possibly causing the involuntary shaking seen in this condition.

In other studies, the gene HS1BP3 has also been associated with essential tremor. The HS1BP3 gene provides instructions for making a protein called hematopoietic-specific protein 1 binding protein 3. This protein is believed to help regulate chemical signaling in the brain region involved in coordinating movements (the cerebellum) and in specialized nerve cells in the brain and spinal cord that control the muscles (motor neurons). An HS1BP3 variant has been identified in some families affected by essential tremor, but it has also been found in unaffected people. It is unknown what relationship, if any, this genetic change may have to the signs and symptoms of this condition.

How do people inherit essential tremor?

Essential tremor can be passed through generations in families, but the inheritance pattern varies. In most affected families, essential tremor appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In other families, the inheritance pattern is unclear. Essential tremor may also appear in people with no previous history of the disorder in their family.

Where can I find information about treatment for essential tremor?

You may find information on treatment or management of essential tremor or some of its symptoms in the links below, particularly the links for MedlinePlus Encyclopedia, Educational resources, and Patient support.

Where can I find additional information about essential tremor?

You may find the following resources about essential tremor helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for essential tremor?

  • benign essential tremor
  • familial tremor
  • hereditary essential tremor

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about essential tremor?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding essential tremor?

autosomal ; autosomal dominant ; benign ; cell ; cerebellum ; dopamine ; familial ; gene ; hematopoietic ; inheritance ; inheritance pattern ; involuntary ; motor ; motor neuron ; motor skill ; nerve cell ; nervous system ; neurological ; neuron ; neurotransmitters ; prevalence ; protein ; receptor ; sign ; stress ; symptom ; trauma ; tremor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Benito-León J, Louis ED. Essential tremor: emerging views of a common disorder. Nat Clin Pract Neurol. 2006 Dec;2(12):666-78; quiz 2p following 691. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=17117170)
  • Deng H, Le W, Jankovic J. Genetics of essential tremor. Brain. 2007 Jun;130(Pt 6):1456-64. Epub 2007 Mar 12. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=17353225)
  • Deng H, Le WD, Guo Y, Huang MS, Xie WJ, Jankovic J. Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease. Neurology. 2005 Aug 23;65(4):651-2. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16116142)
  • Higgins JJ, Lombardi RQ, Pucilowska J, Jankovic J, Golbe LI, Verhagen L. HS1-BP3 gene variant is common in familial essential tremor. Mov Disord. 2006 Mar;21(3):306-9. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16211613)
  • Higgins JJ, Lombardi RQ, Pucilowska J, Jankovic J, Tan EK, Rooney JP. A variant in the HS1-BP3 gene is associated with familial essential tremor. Neurology. 2005 Feb 8;64(3):417-21. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15699368)
  • Jankovic J, Beach J, Schwartz K, Contant C. Tremor and longevity in relatives of patients with Parkinson's disease, essential tremor, and control subjects. Neurology. 1995 Apr;45(4):645-8. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=7723949)
  • Jankovic J, Noebels JL. Genetic mouse models of essential tremor: are they essential? J Clin Invest. 2005 Mar;115(3):584-6. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15765140)
  • Jankovic J. Essential tremor: a heterogenous disorder. Mov Disord. 2002 Jul;17(4):638-44. Review. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12210851)
  • Jeanneteau F, Funalot B, Jankovic J, Deng H, Lagarde JP, Lucotte G, Sokoloff P. A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor. Proc Natl Acad Sci U S A. 2006 Jul 11;103(28):10753-8. Epub 2006 Jun 29. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16809426)
  • Lorenz D, Deuschl G. Update on pathogenesis and treatment of essential tremor. Curr Opin Neurol. 2007 Aug;20(4):447-52. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=17620881)
  • Louis ED. Essential tremor. Lancet Neurol. 2005 Feb;4(2):100-10. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15664542)
  • Lucotte G, Lagarde JP, Funalot B, Sokoloff P. Linkage with the Ser9Gly DRD3 polymorphism in essential tremor families. Clin Genet. 2006 May;69(5):437-40. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16650084)
  • Ma S, Davis TL, Blair MA, Fang JY, Bradford Y, Haines JL, Hedera P. Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes? Mov Disord. 2006 Sep;21(9):1368-74. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16721753)
  • Sokoloff P, Giros B, Martres MP, Bouthenet ML, Schwartz JC. Molecular cloning and characterization of a novel dopamine receptor (D3) as a target for neuroleptics. Nature. 1990 Sep 13;347(6289):146-51. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=1975644)
  • Tan EK, Prakash KM, Fook-Chong S, Yih Y, Chua E, Lum SY, Wong MC, Pavanni R, Zhao Y. DRD3 variant and risk of essential tremor. Neurology. 2007 Mar 6;68(10):790-1. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=17339592)
  • Thanvi B, Lo N, Robinson T. Essential tremor-the most common movement disorder in older people. Age Ageing. 2006 Jul;35(4):344-9. Epub 2006 Apr 26. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16641144)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2008
Published: May 4, 2009