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Familial Tremor

Familial tremor (FT) is a subtype of essential tremor (ET) that is autosomal dominant. ET and FT are common causes of tremors and can affect individuals both in childhood and adulthood.


Presentation

Familial tremor is described as a form of essential tremor. It is present in more than one individual in a family. It has a genetic component and is inherited in an autosomal dominant pattern. Variants in the LINGO1 (leucine-rich repeat and immunoglobulin domain-containing protein 1) gene have been found to be a predisposing factor for the disease, although the gene responsible for FT has yet to be identified [1].

The clinical features of FT and non-familial ET are almost identical, with the distinction of a negative family history of tremors in sporadic ET. It is further suggested that FT has an earlier age of onset than sporadic ET [2]. Most cases of ET have an onset in middle age, and a minority occur in children and the elderly.

There is no single definition of ET, however, The Movement Disorder Society's Tremor Investigation Group states that in cases of ET, there should not be an underlying etiology [3]. The presentation varies greatly between individuals [4].

The effects of the tremor are most prominent in the upper extremities and rarely affect the lower limbs. Patients may have difficulty carrying out motor tasks such as writing, holding objects and using tools or utensils. In addition, there may be involvement of muscle groups in the head, neck, and eyes. This gives rise to features such as head nodding and vocal tremor.

The amplitude and frequency of tremors vary but may be less prominent at rest. Some patients experience paroxysmal tremors. Although symmetry is a typical feature, a degree of asymmetry is not uncommon. Moreover, tremors are exacerbated by caffeine, heightened emotional states, hunger, certain drugs, and sleep deprivation. In contrast, tremors are alleviated by the ingestion of alcohol (this has been used in the diagnosis of ET) and sleep [5]. The signs are progressive, usually over many years [6]. ET that is diagnosed after the fifth decade of life, tends to progress more rapidly [2].

In a small proportion of reported cases, individuals exhibit neurological symptoms that may include ataxia, dysmetria, intention tremor, and other cerebellar signs [7].

Rigor
  • URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services.[lutheranhealthcare.org]
Neck Pain
  • pain and pain into your arms and weakness or numbness in your arms or hands neuromd2012 : Again, I think you would have noted these other symptoms neuromd2012 : neuromd2012 : There are dopamine responsive tremors as well, these are along the diagnosis[justanswer.com]
Tremor
  • Familial tremor (FT) is a subtype of essential tremor (ET) that is autosomal dominant. ET and FT are common causes of tremors and can affect individuals both in childhood and adulthood. Familial tremor is described as a form of essential tremor.[symptoma.com]
  • Postural tremor resembled essential tremor and responded to the anticonvulsants such as clonazepam, primidone and sodium valproate. Seizures were infrequent.[ncbi.nlm.nih.gov]
  • Abstract Primidone given to a patient for epilepsy produced an unexpected reduction in benign familial tremor. Over the next eight years the drug was therefore tried in a prospective study of 20 other patients with benign familial tremor alone.[ncbi.nlm.nih.gov]
  • Tree Number(s): C10.228.662.350 MeSH Unique ID: D020329 Entry Terms: Essential Tremors Tremor, Essential Tremors, Essential Benign Essential Tremor Benign Essential Tremors Essential Tremor , Benign Essential Tremors, Benign Tremor, Benign Essential Tremors[ncbi.nlm.nih.gov]
  • Cf Essential tremor . familial tremor A tremor indistinguishable from essential tremor in its clinical manifestation. Unlike essential tremor, it is inherited as an autosomal dominant trait.[medical-dictionary.thefreedictionary.com]
Hand Tremor
  • Essential tremor is different from Parkinson's disease is three distinct ways: Essential tremor of the hands usually occurs when you use your hands; with Parkinson’s disease, hand tremors occur when your hands are at rest.[houstonmethodist.org]
  • Familial neck tremor or hands tremor are benign conditions that even with Western medicine are very hard to treat.[zeel.com]
  • See also: Drug-induced tremor Essential tremor Hand tremor Tremor Causes Return to top Tremors occur when there is a problem with the nerves supplying certain muscles. They may affect the whole body or just certain areas, such as your hand.[pacificschoolserver.org]
  • Clinical description BAFME usually presents in the second decade of life (but age of onset can range from age 11-50) with a minor cortical hand tremor.[orpha.net]
Action Tremor
  • Onset of age is usually in the 60s Intentional Tremor: pastoral, bilateral action tremor of hands, forearms, head, neck, voice. Worsened with emotional stress and intentional movement. Tremor shortly relieved with alcohol.[quizlet.com]
  • Most people diagnosed with essential tremor have action tremor, which means they shake when they move, and some develop a distinctive nodding or shaking of the head.[health.harvard.edu]
  • Action tremor asymmetry profile does not aggregate in families with essential tremor. Front Neurol. 2017 Apr;19(8): 148.[sperlingmedicalgroup.com]
  • The condition is characterized by action tremors, meaning the tremors are noticeable when the affected area is moving, but improve when at rest. Most people seek treatment when the condition begins to interfere with their quality of life.[uofmhealth.org]
Tremulousness
  • The patients showed either tremulous finger movements or seizures as the initial symptoms between 19 and 30 years of the age without progression.[ncbi.nlm.nih.gov]
  • […] voire d autres parties du corps et qui n… … Wikipédia en Français essential tremor — n a common usu. hereditary or familial disorder of movement that is characterized by uncontrolled trembling of the hands and often involuntary nodding of the head and tremulousness[medicine.academic.ru]
  • The head can bob, and the voice can take on a tremulous quality because the vocal cords quiver. "Familial" in the "familial tremor" name has real meaning. This kind of tremor has a genetic basis.[articles.sun-sentinel.com]
  • Obtaining a handwriting sample may be helpful in making an accurate diagnosis; in ET handwriting is generally large and tremulous, whereas in PD, micrographia (very small handwriting) is common.[practicalneurology.com]
  • She continued sober but increasingly tremulous u ntil April, 1989, when she returned, requesting acupuncture to help her with her head tremor, which by then had become intolerable.[arthuryinfan.wordpress.com]
Vocal Tremor
  • This gives rise to features such as head nodding and vocal tremor. The amplitude and frequency of tremors vary but may be less prominent at rest. Some patients experience paroxysmal tremors.[symptoma.com]
  • tremor Medication-induced postural tremor Metallic tremor On examination - intention tremor On examination - tremor of tongue On examination - tremor outstretched hands Palatal tremor Physiologic tremor Physiological tremor Postural tremor Progressive[icd9data.com]
  • In some people with essential tremor , the tremor may affect the voice (vocal tremor). Essential tremor does not shorten the lifespan.[ghr.nlm.nih.gov]

Workup

There is no specific diagnostic test for essential tremor and familial tremor, thus the diagnosis is often clinical. If there are atypical features, clinicians may carry out laboratory and imaging studies to exclude other causes of observed symptoms. These include measuring thyroid, renal and liver function, as well as electrolyte balance. Electromyography is not a routine procedure, although it may be useful.

Imaging techniques employed are computerized tomography (CT) scanning, which should be normal in cases of ET and FT, as well as magnetic resonance imaging (MRI), to rule out central nervous system lesions. Single photon emission CT (SPECT) can be used to accurately diagnose Parkinson's disease, as some cases of ET can be mistaken for the former [8]. Ultrasound has also been used to help delineate causes of tremor[9]. Further conditions to rule out are tremors due to alcohol withdrawal, caffeine, drugs, or anxiety.

Treatment

  • The severity of impairment and the availability of treatment vary widely. Knowledge of brain and nerve health has advanced rapidly in recent decades. Many new treatments and medicines are available to treat various disorders.[sharecare.com]
  • I don't know if any alternative treatments are effective. If you wanted to try anything in this direction I'd begin by trying acupuncture – but don't go chasing after a lot of alternative treatments – it'll just cost you a lot of money![netdoctor.co.uk]
  • Treatment should take place as soon as possible, because often the neurotoxicity can lead to non-reversible cellular damage of the brain stem and limbic system. Initial treatment for patient is 2-4 weeks at the clinic.[marioninstitute.org]
  • Non-medical approaches, such as relaxation therapies and “weighting” may also be recommended with other treatment options Presently, there are no known methods of preventing this disorder.[dovemed.com]

Prognosis

  • […] quality of one’s life; it can also cause severe psychological stress Please find comprehensive information on Essential Tremor regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis[dovemed.com]
  • Outlook (Prognosis) Return to top A familial tremor is not a dangerous condition, but some patients find the shaking annoying and embarrassing.[pacificschoolserver.org]
  • Prognosis ET can gradually worsen over many years, but is usually slowly progressive. It rarely becomes moderately or severely disabling.[brainfoundation.org.au]
  • Prognosis BAFME has no effect on life expectancy. With successful treatment, patients are often relieved from their symptoms. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • […] self-reporting in essential tremor, whether personal or within the family Prevalence of other causes of tremor, such as medications, or thyroid disease References (essential)/Pages/Introduction.aspx Further Reading Essential Tremor Essential Tremor Prognosis[news-medical.net]

Etiology

  • Autosomal dominant inherited disorder of unknown etiology. Onset of age is usually in the 60s Intentional Tremor: pastoral, bilateral action tremor of hands, forearms, head, neck, voice. Worsened with emotional stress and intentional movement.[quizlet.com]
  • Per wikipedia on cause: "The underlying etiology is not clear but many cases seem to be familial.[14] It has been estimated that approximately one-half of the cases is due to a genetic mutation and the pattern of inheritance is most consistent with autosomal[paleohacks.com]
  • There is no single definition of ET, however, The Movement Disorder Society's Tremor Investigation Group states that in cases of ET, there should not be an underlying etiology. The presentation varies greatly between individuals.[symptoma.com]
  • Therefore, it is unknown to what extent ET aggregates within families beyond that expected by chance, and the importance of genetic susceptibility in the etiology of ET at the population level has not been established.[ncbi.nlm.nih.gov]
  • 2000 PubMed search builder options Subheadings: analysis anatomy and histology blood cerebrospinal fluid chemically induced classification complications diagnosis diagnostic imaging diet therapy drug therapy economics enzymology epidemiology ethnology etiology[ncbi.nlm.nih.gov]

Epidemiology

  • 10) Year introduced: 2000 PubMed search builder options Subheadings: analysis anatomy and histology blood cerebrospinal fluid chemically induced classification complications diagnosis diagnostic imaging diet therapy drug therapy economics enzymology epidemiology[ncbi.nlm.nih.gov]
  • ", keywords "essential tremor, genetic epidemiology, genetics, linkage analysis, neurodegeneration", author "Hicks, {James E.} and Ioanna Konidari and Scott, {Burton L.} and Stajich, {Jeffrey M.} and Ashley-Koch, {Allison E.} and John Gilbert and Scott[miami.pure.elsevier.com]
  • May 01, 1996 ; 46 (5) Views & Reviews The genetic epidemiology of essential tremor Elan D. Louis , Ruth Ottman First published May 1, 1996, DOI: This article requires a subscription to view the full text.[n.neurology.org]
  • There are many clinical, epidemiologic, genetic, neuroimaging and neuropathological data suggesting a relationship between ET and PD [12] – [14] .[journals.plos.org]
Sex distribution
Age distribution

Pathophysiology

  • Essential tremor is so common that if it were clinically significant (i.e. if it caused signigicant morbidity or mortality) the pathophysiology would have been worked out and there would likely be some treatments.[justanswer.com]
  • […] been identified but genetic linkage has been established with several chromosomal regions.[15][16] A number of environmental factors, including toxins, are also under active investigation and these may play a role in disease etiology.[17] In terms of pathophysiology[paleohacks.com]
  • Review Date: 5/28/2008 Reviewed By: Linda Vorvick, MD, Seattle Site Coordinator, Lecturer, Pathophysiology, MEDEX Northwest Division of Physician Assistant Studies, University of Washington School of Medicine; and Daniel B.[lutheranhealthcare.org]
  • Update Date: 5/28/2008 Updated by: Linda Vorvick, MD, Seattle Site Coordinator, Lecturer, Pathophysiology, MEDEX Northwest Division of Physician Assistant Studies, University of Washington School of Medicine; and Daniel B.[pacificschoolserver.org]
  • These data indicate that pathological changes in the cerebellum are a part of the pathophysiological cascade of events in both forms of ET.[link.springer.com]

Prevention

  • Non-medical approaches, such as relaxation therapies and “weighting” may also be recommended with other treatment options Presently, there are no known methods of preventing this disorder.[dovemed.com]
  • […] classification complications diagnosis diagnostic imaging diet therapy drug therapy economics enzymology epidemiology ethnology etiology genetics history metabolism mortality nursing organization and administration pathology physiology physiopathology prevention[ncbi.nlm.nih.gov]
  • (A year ago I suffered a brain hemmorhage, R side over the pons area, as a result of paint poisoning - cans of spray paint- it was a stupid, preventable accident- I'm almost 100% but still have some kind of iron deposits in the brain tissue, and still[justanswer.com]

References

Article

  1. Tan EK, Teo YY, Prakash KM, et al. LINGO1 variant increases risk of familial essential tremor. Neurology. 2009;73(14):1161–1162.
  2. Louis ED, Dogu O. Does age of onset in essential tremor have a bimodal distribution? Data from a tertiary referral setting and a population-based study. Neuroepidemiology. 2007;29(3-4):208-212.
  3. Deuschl G, Bain P, Brin M. Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee. Mov Disord. 1998;13(Suppl 3 M):2–23.
  4. Whaley NR, Putzke JD, Baba Y, Wszolek ZK, Uitti RJ. Essential tremor: phenotypic expression in a clinical cohort. Parkinsonism Relat Disord. 2007;13(6):333–339.
  5. Voller B, Lines E, McCrossin G, et al. Alcohol challenge and sensitivity to change of the essential tremor rating assessment scale. Mov Disord. 2014;29(4):555–558.
  6. Putzke JD, Whaley NR, Baba Y, Wszolek ZK, Uitti RJ. Essential tremor: predictors of disease progression in a clinical cohort. J Neurol Neurosurg Psychiatry. 2006;77(11):1235–1237.
  7. Rao AK, Gillman A, Louis ED. Quantitative gait analysis in essential tremor reveals impairments that are maintained into advanced age. Gait Posture. 2011;34(1):65–70.
  8. Cuberas-Borrós G, Lorenzo-Bosquet C, Aguadé-Bruix S, et al. Quantitative evaluation of striatal I-123-FP-CIT uptake in essential tremor and parkinsonism. Clin Nucl Med. 2011;36(11):991-996.
  9. Kim JS, Oh YS, Kim YI, Koo JS, Yang DW, Lee KS. Transcranial sonography (TCS) in Parkinson's disease (PD) and essential tremor (ET) in relation with putative premotor symptoms of PD. Arch Gerontol Geriatr. 2012;54(3):e436-439.

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Last updated: 2018-06-22 09:14