Drżenie esencjalne
Etiologia i przyczyny

Drżenie esencjalne (ET) jest najczęstszym zaburzeniem ruchowym charakteryzującym się rytmicznym drżeniem rąk i ramion podczas ruchu, z etiologią obejmującą zarówno czynniki genetyczne, jak i środowiskowe. Około 50-70% przypadków ma podłoże genetyczne z dziedziczeniem autosomalnie dominującym, jednak konkretne mutacje są heterogeniczne i obejmują geny takie jak FUS/TLS, HTRA2, TENM4, LINGO1, DRD3, HS1BP3 oraz HAPT1. Patofizjologia ET wiąże się z dysfunkcją obwodów mózgowych, zwłaszcza móżdżku, wzgórza (jądro brzuszno-pośrednie, VIM) i pnia mózgu, prowadząc do nieprawidłowego rytmicznego sygnału wyjściowego, co manifestuje się drżeniem. Badania neuropatologiczne wskazują na utratę komórek Purkinjego i zmiany w jądrze zębatym, a także potencjalną rolę receptorów GABA w móżdżku. Czynniki środowiskowe, takie jak ekspozycja na metale ciężkie (ołów, rtęć, aluminium), neurotoksyny (harman) oraz pestycydy, mogą nasilać objawy lub przyczyniać się do rozwoju choroby.

Etiologia, przyczyny drżenia esencjalnego

Drżenie esencjalne (Essential tremor, ET) to najczęstsze zaburzenie ruchowe, charakteryzujące się niekontrolowanym, rytmicznym drżeniem części ciała, przede wszystkim rąk i ramion, występującym podczas wykonywania ruchów. Mimo że jest najczęstszym drżeniem patologicznym, jego dokładna etiologia pozostaje w znacznej mierze niewyjaśniona.123

Czynniki genetyczne

Około 50-70% przypadków drżenia esencjalnego ma podłoże genetyczne i jest określane jako rodzinne drżenie (familial tremor).123 Badania wskazują na dziedziczenie autosomalnie dominujące, co oznacza, że tylko jeden zmutowany gen od jednego z rodziców jest potrzebny do rozwoju choroby.45 W przypadku rodzinnego drżenia esencjalnego, każde dziecko osoby dotkniętej tym schorzeniem ma 50% szans na odziedziczenie odpowiedzialnego za to schorzenie genu.67

Mimo intensywnych badań, nie zidentyfikowano dotychczas konkretnego genu odpowiedzialnego za wszystkie przypadki drżenia esencjalnego. Zamiast tego odkryto kilka mutacji genetycznych na różnych chromosomach, które mogą przyczyniać się do rozwoju choroby:7

  • Mutacje na chromosomach 1-3, 6, 11 i 167
  • Mutacje w genie FUS/TLS (fused in sarcoma/translated in liposarcoma) zidentyfikowane w kanadyjskich rodzinach7
  • Mutacje w genie HTRA2 (HTRA Serine Peptidase 2) obserwowane w rodzinie tureckiej7
  • Mutacje w genie TENM4 (teneurin transmembrane protein 4) zaobserwowane w populacji hiszpańskiej7
  • Zmiany w genie LINGO1 (leucine-rich repeat and immunoglobulin-like domain-containing protein 1)78
  • Mutacje w genie DRD3 (dopamine receptor 3, wcześniej określanym jako ETM1)6
  • Mutacje w genie HS1BP3 (HCLS1 binding protein 3)6
  • Mutacje w genie HAPT1, które są również związane z chorobą Parkinsona i innymi schorzeniami neurodegeneracyjnymi7

Badania wykazały również zmiany w receptorach GABA w móżdżku u osób z drżeniem esencjalnym, co może wpływać na mechanizmy hamowania w układzie nerwowym.79

Zaburzenia neurologiczne w móżdżku i obwodach mózgowych

Drżenie esencjalne jest prawdopodobnie wynikiem nieprawidłowej komunikacji między określonymi obszarami mózgu, szczególnie móżdżkiem i wzgórzem.59 Móżdżek odgrywa kluczową rolę w kontroli koordynacji ruchowej, precyzji i dokładności ruchów. Najbardziej prawdopodobna teoria sugeruje, że dysfunkcja obwodów mózgowych obejmujących móżdżek, wzgórze i pień mózgu prowadzi do nieprawidłowego wysyłania sygnałów do mięśni, co powoduje drżenie.1011

Szczególną rolę w rozwoju drżenia esencjalnego przypisuje się jądru brzuszno-pośredniemu wzgórza (ventrointermediate nucleus, VIM). Struktury te działają jako swego rodzaju rozrusznik w tej chorobie.12 Proponowany mechanizm obejmuje:1213

  • Nieprawidłowy rytmiczny sygnał wyjściowy z głębszych struktur łączących się z VIM, takich jak jądro zębate móżdżku lub jądro dolne oliwki
  • Nieprawidłowy sygnał przemieszczający się przez jądro czerwienne do VIM i kory ruchowej poprzez szlak zębato-czerwienno-wzgórzowy (DRTt)
  • Manifestacja tych nieprawidłowości w postaci drżenia

Badania wskazują również na możliwą łagodną degenerację móżdżku u osób z drżeniem esencjalnym.14 Niektóre badania pośmiertne wykazały:15

Istnieje też teoria, że drżenie esencjalne może być wynikiem nieprawidłowego funkcjonowania centralnego oscylatora znajdującego się w trójkącie Guillain-Mollaret w pobliżu pnia mózgu, obejmującego jądro dolne oliwki.17

Czynniki środowiskowe i toksyczne

Chociaż czynniki genetyczne odgrywają istotną rolę w etiologii drżenia esencjalnego, zmienność wieku wystąpienia, obecność sporadycznych przypadków oraz niekompletna zgodność choroby u bliźniąt jednojajowych sugerują, że czynniki środowiskowe również mają znaczenie.1 Niektóre toksyny środowiskowe są aktywnie badane jako potencjalne czynniki przyczynowe:18

  • Metale ciężkie – narażenie na ołów, rtęć i aluminium może powodować uszkodzenie ośrodkowego układu nerwowego poprzez przekraczanie bariery krew-mózg, zwiększając jej przepuszczalność i zakłócając procesy wykorzystujące wapń, w tym aktywność synaptyczną181920
  • Harmana – heterocykliczna amina (HCA) będąca silną neurotoksyną wywołującą drżenie, często znajdująca się w ludzkiej diecie. Badania wykazały podwyższone stężenie harmany we krwi pacjentów z drżeniem esencjalnym w porównaniu z grupą kontrolną, co może być związane ze zmianami w metabolizmie, a nie ze zwiększonym spożyciem w diecie17
  • Toksyczne chemikalia – w tym niektóre pestycydy18

Czynniki nasilające drżenie esencjalne

Istnieje szereg czynników, które mogą nasilać objawy drżenia esencjalnego:213

  • Stres i niepokój – mogą znacząco zwiększać amplitudę drżenia2221
  • Zmęczenie – często nasila drżenie2123
  • Kofeina – może zwiększać intensywność drżenia324
  • Nikotyna – może nasilać objawy3
  • Niektóre leki – m.in. leki stymulujące, steroidy, leki przeciwdepresyjne2522
  • Odstawienie alkoholu – może nasilać drżenie, choć paradoksalnie spożycie alkoholu często tymczasowo zmniejsza objawy drżenia esencjalnego31626
  • Niski poziom cukru we krwi (hipoglikemia)2127

Interesującym aspektem drżenia esencjalnego jest jego reakcja na alkohol. U wielu pacjentów niewielka ilość alkoholu może tymczasowo zmniejszać nasilenie drżenia, co jest cechą charakterystyczną tego schorzenia i może być wykorzystywane w diagnostyce różnicowej. Jednak mechanizm tego działania nie jest do końca poznany i może być związany z wpływem alkoholu na szlak GABA.162826

Schorzenia współistniejące i wtórne przyczyny drżenia

Drżenie może być również objawem innych schorzeń medycznych, które należy wykluczyć podczas diagnostyki drżenia esencjalnego:2729

  • Nadczynność tarczycy (hipertyreoza) – może powodować drżenie jako jeden z objawów zaburzeń metabolicznych2730
  • Zaburzenia elektrolitowe – w tym hipokalcemia (niski poziom wapnia), hipomagnesemia (niski poziom magnezu) i zmiany poziomu sodu lub potasu2730
  • Choroba Parkinsonadrżenie parkinsonowskie ma jednak zazwyczaj inny charakter (drżenie spoczynkowe) i towarzyszy mu sztywność, bradykinezja i inne objawy2429
  • Stwardnienie rozsiane – może powodować drżenie móżdżkowe2729
  • Dystoniadrżenie dystoniczne ma inne cechy kliniczne3132
  • Udar mózgu – rzadko może powodować drżenie z niewieloma innymi objawami3133
  • Neuropatia obwodowa – może powodować drżenie neuropatyczne3129
  • Urazy mózgutraumatyczne uszkodzenie mózgu może wywoływać drżenie2734
  • Guzy mózgu – mogą być przyczyną drżenia27
  • Choroba Wilsona – genetyczne zaburzenie metabolizmu miedzi29
  • Niedobór witaminy B12 – może wpływać na funkcjonowanie układu nerwowego i powodować drżenie35

Debata o naturze neurodegeneracyjnej

Wśród badaczy toczy się fundamentalna debata dotycząca tego, czy drżenie esencjalne jest chorobą neurodegeneracyjną.17 Dane sugerujące neurodegeneracyjny charakter obejmują:15

  • Pośmiertne wyniki badań wykazujące nieprawidłowości patologiczne w pniu mózgu i móżdżku
  • Obecność ciał Lewy’ego w miejscu sinawym u niektórych pacjentów
  • Utratę komórek Purkinjego
  • Nieprawidłowości jądra zębatego

Z drugiej strony, dane przemawiające przeciwko neurodegeneracyjnemu charakterowi drżenia esencjalnego obejmują:15

  • Poprawę zaburzeń chodu po podaniu etanolu
  • Brak utraty objętości istoty szarej w morfometrii opartej na wokselach
  • Brak potwierdzenia znaczącej obecności ciał Lewy’ego w miejscu sinawym u większości pacjentów

Niektórzy eksperci sugerują, że osoby z drżeniem esencjalnym mogą mieć wyższe ryzyko rozwoju innych schorzeń neurologicznych, takich jak choroba Parkinsona i utrata słuchu, szczególnie jeśli drżenie zaczyna się po 65. roku życia. Może również występować wyższe ryzyko rozwoju choroby Alzheimera.20

Podsumowanie etiologii drżenia esencjalnego

Drżenie esencjalne prawdopodobnie reprezentuje zespół chorobowy o złożonej etiologii, a nie pojedynczą jednostkę chorobową.1536 Aktualna hipoteza zakłada, że przyczyny drżenia esencjalnego są heterogeniczne, z różnymi czynnikami genetycznymi i środowiskowymi przyczyniającymi się do rozwoju choroby.36

Prawdopodobnie istnieje wiele mechanizmów prowadzących do podobnego obrazu klinicznego, co tłumaczyłoby zarówno różnice w odpowiedzi na leczenie, jak i zróżnicowany przebieg choroby u różnych pacjentów. Przykładowo, tylko u części pacjentów z drżeniem esencjalnym obserwuje się poprawę po lekach wpływających na szlak GABA, a alkohol zmniejsza drżenie tylko u niektórych chorych.16

Badania trwają, a naukowcy z National Institute of Neurological Disorders and Stroke (NINDS) skupiają się na badaniach rodzin z wczesnym początkiem drżenia esencjalnego (przed 40. rokiem życia) i wielopokoleniowym występowaniem choroby, aby lepiej wykryć powiązania genetyczne.37

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  1. 10.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Essential Tremor – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK499986/
    The etiology of essential tremor is mostly unexplained. About half of the cases of essential tremor appear to result from a genetic mutation; although, a specific gene has not been identified. This form is referred to as familial tremor and is an autosomal dominant disorder. The variability in age of onset, the presence of sporadic cases, and incomplete concordance of essential tremor among monozygotic twins suggest that environmental factors play a role. […] Essential tremor is a progressive disorder with no cure. Even though it is not life-threatening, it can cause significant distress and impair functionality. There are even studies to suggest that it may give rise to Parkinson disease or dystonia.
  • #2 Essential Tremor: Practice Essentials, Background, Etiology
    https://emedicine.medscape.com/article/1150290-overview
    Essential tremor, the most common movement disorder, is a syndrome of unknown etiology characterized by a slowly progressive action tremor (postural and/or kinetic tremor), usually affecting both upper extremities. […] The etiology of essential tremor is not known, and fundamental debate exists as to whether essential tremor is a neurodegenerative disease. […] The etiology and pathophysiology of essential tremor is not well understood. No pathologic findings are known to be consistently associated with essential tremor. However, the following has been hypothesized: Essential tremor is the result of an abnormally functioning central oscillator, which is located in the Guillain Mollaret triangle near the brainstem and involves the inferior olivary nucleus. […] Harmane, a heterocyclic amine (HCA), is a potent tremor-producing neurotoxin. It is often found in the human diet. Blood concentrations have been found to be elevated in patients with essential tremor as compared with controls.
  • #2 Essential Tremor: Practice Essentials, Background, Etiology
    https://emedicine.medscape.com/article/1150290-overview
    The most likely etiology appears to be alterations in metabolism rather than increased dietary intake. […] Fundamental debate exists as to whether essential tremor is a neurodegenerative disease. Data suggesting that it is neurodegenerative includes postmortem findings of pathologic abnormalities in the brainstem and cerebellum, including Lewy bodies in the locus ceruleus, loss of Purkinje cells, and abnormalities of the dentate nucleus. […] Conflicting data argues against essential tremor being a neurodegenerative disease. This data includes improvement of gait abnormalities with ethanol administration, lack of gray matter volume loss on voxel-based morphometry, failure to confirm prominent presence of Lewy bodies in the locus ceruleus, and other pathologic findings. […] Essential tremor probably represents a syndrome, and multiple etiologies will likely be identified. Many of these causes are probably genetic. […] Essential tremor is familial in 50-70% of cases. Transmission is autosomal dominant, with incomplete penetrance. Some cases are sporadic with unknown etiology. Twin studies suggest that genetic and environmental factors contribute to the pathogenesis.
  • #3 Essential Tremor
    https://www.neurologycenter.com/neurological-conditions/essential-tremor
    Essential tremor (ET) is the most common cause of action tremors worldwide with an estimated prevalence worldwide of 1% overall and 5% in adults over the age of 60 years. […] ET is familial, or inherited, in at least 50% of cases. […] There are aggravating factors that can make the tremor worse, such as stress, nicotine, caffeine, withdrawal from alcohol, and some medications. […] There are other conditions that can be confused with ET, for example, hyperthyroidism.
  • #3 Tremor: Sorting Through the Differential Diagnosis | AAFP
    https://www.aafp.org/pubs/afp/issues/2018/0201/p180.html
    The most common pathologic tremor is essential tremor, which affects 0.4% to 6% of the population. In about one-half of cases, it is transmitted in an autosomal-dominant fashion. […] Essential tremor affects 0.4% to 6% of the population. In about one-half of cases, it is transmitted in an autosomal-dominant fashion. […] The diagnosis of essential tremor is clinical, based on classic symptoms and tremor features. […] A family history of neurologic disease or tremor suggests a genetic component, which is common in essential tremor.
  • #4 Essential tremor Information | Mount Sinai – New York
    https://www.mountsinai.org/health-library/diseases-conditions/essential-tremor
    Essential tremor (ET) is a type of involuntary shaking movement. It has no identified cause. […] The exact cause of ET is unknown. Research suggests that the part of the brain that controls muscle movements does not work correctly in people with ET. […] If an ET occurs in more than one member of a family, it is called a familial tremor. This type of ET is passed down through families (inherited). This suggests that genes play a role in its cause. […] Familial tremor is usually a dominant trait. This means that you only need to get the gene from one parent to develop the tremor.
  • #5 Essential Tremor: What It Is, Causes, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/11886-essential-tremor
    Essential tremor is a movement disorder that causes uncontrollable shaking of your hands, arms and other body parts. […] Experts dont know exactly why essential tremor happens or if there are triggers that cause them to happen. However, theres evidence that it happens because of the changes in certain parts of your brain. […] About half of all essential tremor cases are inherited. This condition appears to be an autosomal dominant inherited condition. That means if one parent passes a mutated gene that causes essential tremor to you, theres about a 50% chance that youll inherit the condition.
  • #6 Essential tremor | Causes, Symptoms & Treatment | Britannica
    https://www.britannica.com/science/essential-tremor
    Essential tremor is common and affects both men and women. […] The cause of essential tremor is unknown; however, the disorder does tend to run in families. […] There are several genetic variations that have been identified in association with essential tremor. […] The best-characterized variation occurs in a gene known as DRD3 (dopamine receptor 3; formerly designated ETM1, or essential tremor 1). […] Variations in a gene called HS1BP3 (HCLS1 binding protein 3) have been identified in association with essential tremor, although the mechanisms by which these variations give rise to the disorder are unclear.
  • #7 Essential tremor – Wikipedia
    https://en.wikipedia.org/wiki/Essential_tremor
    The main underlying cause of essential tremor is not clear, but many cases seem to be familial. About half of the cases are due to a genetic mutation and the pattern of inheritance is most consistent with autosomal dominant transmission, meaning patients with Essential Tremor have around a 50% chance to pass it on to their children. There are multiple gene mutations and presentations on various chromosomes that lead to Essential Tremor. These include genes present on chromosomes 1–3, 6, 11, and 16. Each presentation or mutation of different genes were associated with families from different regions. For example, presentation of a gene associated with Essential Tremor on chromosome 6 has been noted in North American families, while a Canadian family was noted with mutations in the fused in sarcoma/translated in liposarcoma (FUS/TLS) gene. Other mutations in genes such as the HTRA Serine Peptidase 2 (HTRA2) and the teneurin transmembrane protein 4 (TENM4), have been observed in a Turkish family and the Spanish population respectively. Recent post mortem studies have displayed alterations in the leucine-rich repeat and immunoglobulin-like domain-containing protein 1 (LINGO1) gene and GABA receptors in the cerebellum of people with essential tremor. HAPT1 mutations have also been linked to ET, as well as to Parkinson’s disease, multiple system atrophy, and progressive supranuclear palsy.
  • #8 Azthena logo with the word Azthena
    https://www.news-medical.net/health/Normal-Noticeable-and-Essential-Tremors.aspx
    Essential tremor is currently thought to be due to cerebellar pathology, which may be very subtle. […] In addition, a neurodegenerative process may underlie essential tremor, as shown by the higher incidence in relatives of patients with PD and other similar conditions caused by neuronal damage. […] The children of a parent with essential tremor have a 50 percent chance of developing the condition, which denotes an autosomal dominant inheritance. That is, one of two copies of a gene must be abnormal for the condition to develop. […] A gene marker has been studied, namely, LINGO1, which seems to carry increased risk. However, some people with essential tremor do not have the gene, while others without any symptoms do carry it.
  • #9 Essential Tremor Treatment, Symptoms & Causes | What is Essential Tremor? | MNC
    https://miamineurosciencecenter.com/en/conditions/essential-tremor/
    Essential tremor is a neurological disorder characterized by uncontrollable, rhythmic shaking of certain body parts. […] The precise cause of essential tremor is not completely understood, and it is considered a complex neurological disorder with environmental and genetic factors contributing to its development. Essential tremor is often classified as an „idiopathic” condition, meaning the underlying cause is unknown. However, several factors are believed to play a role in the development of essential tremor: […] There is a strong genetic component associated with essential tremor. Many individuals with essential tremor have a family history of the condition, suggesting a hereditary predisposition. […] Essential tremor is thought to involve abnormal communication between certain areas of the brain, particularly the cerebellum and thalamus. These regions are responsible for coordinating movement and regulating muscle activity. […] Changes in the levels of neurotransmitters, such as gamma-aminobutyric acid (GABA), may play a role in essential tremor. GABA serves as a neurotransmitter that aids in the modulation of nerve impulses by exerting inhibitory effects, and an imbalance may contribute to the abnormal firing of neurons.
  • #10 Essential Tremor | Inova
    https://www.inova.org/our-services/inova-movement-disorders-program/conditions-and-treatments/essential-tremor
    Essential tremor (ET) is the most common tremor-associated condition and involves a rhythmic shaking of the arms, hands and/or fingers during movement (handwriting, eating, etc). […] The exact cause of essential tremor is not known, but it is thought to be a disorder of the cerebellum, which is the back part of the brain that deals in control of coordination, precision and accuracy of movement. It is known to be a strongly genetic condition; therefore ET classically runs in families.
  • #11 Facts about Essential Tremor Neurological Movement Disorder | Medtronic (CA)
    https://www.medtronic.com/ca-en/your-health/conditions/essential-tremor.html
    Essential tremor is the result of abnormal communication between certain areas of the brain, including the cerebellum, thalamus, and brain stem. The cause of essential tremor is unknown, but there is evidence that for some people the disorder is genetic. However, people with no family history of tremor can also develop essential tremor.
  • #12 Essential Tremor is the Most Common Cause of Head Tremor – Essential Tremor
    https://essentialtremor.org/essential-tremor-is-the-most-common-cause-of-head-tremor/
    Dysfunction of circuits in the brain are thought to be the mechanism for essential tremor. […] It is proposed that the ventrointermediate nucleus (Vim) of the thalamus, deep in the brain, plays a key pacemaker role in this disease. […] If an abnormal rhythmic output develops in deeper structures that connect to the Vim, such as in the cerebellar dentate nucleus or inferior olivary nucleus, an abnormal signal travels downstream through the red nucleus to the Vim and motor cortex via the dentato-rubro-thalamic tract (DRTt), manifesting as tremor. […] Cervical dystonia is another less common cause of head tremor. […] Dystonia is another disease due to an abnormally functioning circuit in the brain. […] In the case of cervical dystonia, the sternocleidomastoid muscle is usually affected more on one side, becoming much larger with spasm, leading to an abnormally sustained neck posture or torticollis.
  • #13 Essential Tremor | University of Utah Health
    https://healthcare.utah.edu/neurosciences/neurology/movement-disorders/essential-tremor
    Essential tremor is a brain condition that causes uncontrollable shaking of the hands, head, and voice. […] We dont fully understand the causes of essential tremor, but specific parts of the brain show abnormal activity linked to the tremor. One specific area is the VIM nucleus of the thalamus, a small structure deep within the brain that coordinates and controls muscle activity. Silencing the VIM, whether with focused ultrasound, radiosurgery, or other treatments, can dramatically improve the tremor.
  • #14 Tremor | National Institute of Neurological Disorders and Stroke
    https://www.ninds.nih.gov/health-information/disorders/tremor
    Essential tremor (previously also called benign essential tremor or familial tremor) is one of the most common movement disorders. Its key feature is a tremor in both hands and arms during action without other neurological signs. It also may affect a persons head, voice, or lower limbs. Although the tremor can start at any age, it most often first appears during adolescence or in middle age (between ages 40 and 50). It can be mild and stay mild, or slowly get worse over time. […] The exact cause of essential tremor is unknown. Studies show essential tremor is accompanied by a mild degeneration of the cerebellum, which is the part of your brain that controls movement coordination. Essential tremor is an inherited condition in 50-70% of cases (referred to as familial tremor). Familial forms often appear early in life.
  • #15 Essential Tremor: Practice Essentials, Background, Etiology
    https://emedicine.medscape.com/article/1150290-overview
    The most likely etiology appears to be alterations in metabolism rather than increased dietary intake. […] Fundamental debate exists as to whether essential tremor is a neurodegenerative disease. Data suggesting that it is neurodegenerative includes postmortem findings of pathologic abnormalities in the brainstem and cerebellum, including Lewy bodies in the locus ceruleus, loss of Purkinje cells, and abnormalities of the dentate nucleus. […] Conflicting data argues against essential tremor being a neurodegenerative disease. This data includes improvement of gait abnormalities with ethanol administration, lack of gray matter volume loss on voxel-based morphometry, failure to confirm prominent presence of Lewy bodies in the locus ceruleus, and other pathologic findings. […] Essential tremor probably represents a syndrome, and multiple etiologies will likely be identified. Many of these causes are probably genetic. […] Essential tremor is familial in 50-70% of cases. Transmission is autosomal dominant, with incomplete penetrance. Some cases are sporadic with unknown etiology. Twin studies suggest that genetic and environmental factors contribute to the pathogenesis.
  • #16 Essential tremor – Wikipedia
    https://en.wikipedia.org/wiki/Essential_tremor
    Essential Tremor was once thought to be a single disease state, however, research shows that there are multiple factors that are associated with causing Essential Tremor. This leads to the consideration that Essential Tremor is more akin to a family of diseases, due to the presence of both genetic (familial) and sporadic Essential Tremors. Currently, there are multiple main hypotheses behind Essential Tremor, being the degeneration of the cerebellum, inheriting the tremor, ingestion of toxins, or the presence of Lewy Bodies in the brainstem. However, post mortem studies showed that only a small number of patients had Lewy Bodies, and was more common for patients not to exhibit them. […] It is unknown how the degeneration of the cerebellum leads to Essential Tremor, however, it is hypothesized that it may be due to the loss of Purkinje cells, as they release gamma-aminobutyric acid (GABA), which is an inhibitory neurotransmitter meant to control the firing of neurons in the cerebellum. In certain Essential Tremor clinical studies which augment the GABA pathway, only some participants exhibited a reduction of tremor. Some patients have responded to alcohol, claiming alcohol has reduced the tremor, however the reduction is only short term. However, alcohol might only be beneficial for those with an impacted GABA pathway, and may not be benefit patients who developed the tremor via other pathways.
  • #17 Essential Tremor: Practice Essentials, Background, Etiology
    https://emedicine.medscape.com/article/1150290-overview
    Essential tremor, the most common movement disorder, is a syndrome of unknown etiology characterized by a slowly progressive action tremor (postural and/or kinetic tremor), usually affecting both upper extremities. […] The etiology of essential tremor is not known, and fundamental debate exists as to whether essential tremor is a neurodegenerative disease. […] The etiology and pathophysiology of essential tremor is not well understood. No pathologic findings are known to be consistently associated with essential tremor. However, the following has been hypothesized: Essential tremor is the result of an abnormally functioning central oscillator, which is located in the Guillain Mollaret triangle near the brainstem and involves the inferior olivary nucleus. […] Harmane, a heterocyclic amine (HCA), is a potent tremor-producing neurotoxin. It is often found in the human diet. Blood concentrations have been found to be elevated in patients with essential tremor as compared with controls.
  • #18 Essential tremor – Wikipedia
    https://en.wikipedia.org/wiki/Essential_tremor
    Some environmental poisons, including toxins, are also under active investigation, as they may play a role in the disease’s cause. Exposure to heavy metals, specifically lead, has been associated with causation of ET. Lead is a heavy metal that can cross the central nervous system’s (CNS) main line of defense, the blood–brain barrier, even increasing its permeability, allowing other harmful substances to access the CNS. This allows lead access to the CNS, permitting it to disturb processes that utilize calcium, including synaptic activity, and causes intracellular disruption, both of which may lead to irreversible damage to the CNS. This would include cerebellar damage which could cause ET. There are other poisons that work in a similar manner to lead such as other heavy metals like mercury and aluminum, as well as toxic chemicals like certain pesticides and alcohol. In particular, excessive alcohol consumption can worsen essential tremor due to damage to the cerebellum.
  • #19 Essential tremor | Better Health Channel
    https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/essential-tremor
    Essential tremor is a neurological (nervous system) disorder characterised by the involuntary shaking or trembling of particular parts of the body, usually the head and hands. […] The cause is unknown, although a genetic link is strongly suspected. […] There is no known cause, but a genetic link is strongly suspected. Each child of a person with essential tremor has a 50% chance of inheriting the disorder themselves. […] Tremor can occur as a side effect of some medications or exposure to contaminants in the environment (E.g. Mercury).
  • #20 Essential tremor: Symptoms, causes, and diagnosis
    https://www.medicalnewstoday.com/articles/249214
    Essential tremor is a neurological condition and a movement disorder. Tremors happen when there is faulty signaling between the nerves and the muscles they connect with, but the exact cause remains unclear. […] There may be genetic factors involving specific chromosomes or the nervous system, but research has not yet confirmed this. According to the National Organization for Rare Disorders (NORD), 1750% of essential tremor cases may be hereditary. […] There may be links between essential tremor and: the use of some medications, exposure to toxins such as lead and mercury, an overactive thyroid, Parkinsons disease, dystonia. […] Some experts have suggested that people with essential tremor may have a higher risk of developing other neurological conditions, such as Parkinsons disease and hearing loss, especially if the tremor starts after the age of 65 years. […] There may also be a higher risk of developing Alzheimers disease, according to NORD.
  • #21 Understanding Essential Tremor: Its Causes, Symptoms & Treatments
    https://www.michiganneurologyassociates.com/blog/understanding-essential-tremor-its-causes-symptoms-treatments
    Essential Tremor differs from Parkinsons Disease in many ways in that Parkinsons is a progressive degenerative disorder linked to multiple other physical findings and is responsive to different medications. […] While experts havent determined its exact cause, the following factors are believed to be involved in the evolution of an essential tremor disorder. […] According to the National Organization for Rare Disorders (NORD), 1750% of essential tremor cases may be hereditary, known as familial tremor. It is an autosomal dominant disorder, if one of your parents has the condition, you have a 50% chance of inheriting it. […] A malfunction within the brain, especially within networks involving the cerebellum (which controls and coordinates muscle movement), may cause essential tremors. […] Specific environmental triggers may cause essential tremor symptoms. They include: Aggravated stress / Anxiety, Fatigue, Caffeine, Stimulants, Alcohol, Specific medicines, Hunger, Low blood sugar.
  • #22 Tremor – Neurologic Disorders – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/neurologic-disorders/movement-and-cerebellar-disorders/tremor
    Tremor may be […] essential tremor is generally thought of as benign and should not shorten life, but symptoms can be disabling. […] Sometimes tremor is a familial condition (eg, essential tremor). […] For action (including postural) tremors: Essential tremor. […] Essential tremor is characterized by progressively persistent tremor (4–12 Hz), usually symmetric and affecting both upper extremities and sometimes the head and voice, particularly in patients with a family history of tremor. […] Medications (see table Some Medication Causes of Tremor by Type) can cause or aggravate different types of tremor. […] Propranolol (20 to 80 mg orally 4 times a day) and other beta-blockers are often effective for tremor enhanced by medications or acute anxiety (eg, stage fright). […] Propranolol 20 to 80 mg orally 4 times a day (or other beta-blockers) is often effective, as is primidone 50 to 250 mg orally 3 times a day.
  • #23 Benign Essential Tremor Causes | Denver Area Specialists
    https://www.neurosurgeryone.com/condition/essential-tremor/
    Close to 10 million adults in the United States experience essential tremor, which is a hereditary neurological movement condition. While the causes of essential tremor are unknown, some experts believe that essential tremor is tied to the area of the brain known as the cerebellum, which controls muscle coordination. […] Essential tremor is most often tied to a family history, and Parkinson’s disease is rarely tied to family history. […] Essential tremor is a condition in which tremors tend to get worse with age. Tremors also can worsen with caffeine, certain medications, fatigue, or stress. […] There is not a cure for essential tremor but most patients can effectively manage their symptoms with treatment. Because essential tremor is not life-threatening, it is often referred to as benign essential tremor. The condition is a progressive disorder, meaning that symptoms typically get worse over time.
  • #24 Involuntary Movements: Types, Causes, and Examples, Stanford 25 | Stanford Medicine 25 | Stanford Medicine
    https://stanfordmedicine25.stanford.edu/the25/involuntary-movements-and-tremors.html
    Most common involuntary movement disorder, typified by a rapid postural tremor most often of the upper extremities. […] Progressive, may appear at anytime of life but most commonly 70 years. […] Commonly bilateral and symmetric. […] Classically affects head and/or speech. […] Classically, tremor decreases with EtOH, worsens with stress. […] Neurological exam is otherwise normal. […] Differentiate from Parkinson by noting absence of resting tremor, rigidity, bradykinesia, etc. […] Causes include a normal physiologic tremor which can be increased in certain states such as sleep deprivation, too much caffeine or nicotine, alcohol withdrawal, increased metabolic states such as in hyperthyroidism and essential tremor. […] Essential tremor will oftentimes have a shakiness in their voice as well. […] Severe essential tremor (ET is usually postural but when severe can be seen at rest or even with movement).
  • #25 Familial and Essential Tremors: Causes of Hand, Muscle & Body Tremors
    https://www.emedicinehealth.com/tremors/article_em.htm
    Familial and essential tremors are the most common conditions associated with action tremor. In the familial, or hereditary form, several members of the same family are affected. This is a genetically heterogeneous condition, and more than one gene might be involved. […] The non-familial form is referred to as essential tremor because it is not associated with any other neurological condition. The term „benign essential tremor” has been used in reference to this tremor; however, this is misleading since the tremor can be very severe and disabling. The essential and the familial hereditary forms are similar in clinical presentation. […] The cause of the disease is unknown, the strongest associated risk factor being age. In some individuals, genetic factors might be important. […] The most common type of drug-induced tremor is the enhanced physiological tremor and is related to the use of drugs such as stimulants, steroids, antidepressants, and caffeine. […] In cases in which the tremor is associated with a specific disease, the tremor improves with the treatment of the condition.
  • #26 Causes of Tremor Other than Parkinson’s | APDA
    https://www.apdaparkinson.org/article/other-causes-of-tremor/
    Essential tremor (ET) is very common, affecting about 4 percent of the population in those aged 65 and older. (This is about 4 times more common than PD). ET is characterized by a kinetic tremor which usually involves the arms, but can involve the legs, head or voice. […] In about 50% of people, there is a clear family history of tremor. Despite the fact that so many people with ET have a family history of the condition, the search for genes that cause ET has been slow. […] In many cases of ET, the tremor is alcohol responsive. This means that the tremor is improved with alcohol. […] A mild rest tremor can be seen in someone with long-standing ET. In addition, instability with walking can also be seen in someone with long-standing ET. […] Treatments include use of medications such as beta-blockers and primidone. Deep brain stimulation (DBS) is a surgical treatment in which thin electrodes introduce electric impulses in specific parts of the brain. DBS of the thalamus is very effective for ET and is used for severe cases.
  • #27 Tremor: What It Is, Causes & Treatment
    https://my.clevelandclinic.org/health/symptoms/tremor
    Brain damage can cause tremor from issues like stroke, brain tumor, alcohol use disorder and traumatic brain injury. Tremor can have several possible causes based on the type and tremor syndrome. Brain damage is one type of cause. […] Tremor can have several possible causes, depending on the type and tremor syndrome, including: Alcohol use disorder and alcohol withdrawal. Brain tumors. Certain medications. Certain metabolic conditions, like hyperthyroidism, hypocalcemia, hypoglycemia (low blood sugar) and hypomagnesemia. These are typically treatable. Certain neurodegenerative conditions, like Parkinsons disease and multiple sclerosis (MS). Stroke. Traumatic brain injuries. […] Essential tremor: This is the most common tremor syndrome, affecting 0.4% to 6% of the U.S. population. Its key feature is a tremor in both hands and arms during voluntary movement without other neurological symptoms. It can also affect your head, voice or lower limbs. This tremor is usually a kinetic tremor.
  • #28 Tremor – Neurologic Disorders – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/neurologic-disorders/movement-and-cerebellar-disorders/tremor
    For some patients, a small amount of alcohol is effective; however, alcohol is not routinely recommended for treatment because abuse is a risk. […] For severe, medication-refractory essential tremor, surgical management with unilateral stereotactic thalamotomy or chronic unilateral or bilateral thalamic deep brain stimulation may be considered.
  • #29 Tremor & Essential Tremor
    https://www.movementdisorders.org/MDS/About/Movement-Disorder-Overviews/Tremor–Essential-Tremor.htm
    Essential tremor (ET) is the most common tremor syndrome seen in adults. […] The etiology of tremor is diverse, and includes essential tremor (with 50% having a positive FH but no single gene identified); as part of genetic disorders eg Wilsons disease; degenerative such as Parkinsons disease, Metabolic diseases (such as thyroid-, parathyroid-, liver disease and hypoglycemia); peripheral neuropathies (eg associated with Charcot-Marie-Tooth; drug-induced (including narcoleptics, tricyclics, lithium, cocaine, alcohol, adrenaline, bronchodilators, theophylline, caffeine, steroids, valproate, amiodarone, thyroid hormones, vincristine); toxins (heavy metals) and psychogenic/functional disorders. […] Etiologically, tremor can be classified into physiological tremor, enhanced physiological tremor, essential tremor syndromes (including classical ET), dystonic tremor, parkinsonian tremor, cerebellar tremor (often associated with multiple sclerosis), Holmes tremor (a.k.a. rubral tremor), palatal tremor, neuropathic tremor, toxic or drug-induced tremor, and psychogenic tremor.
  • #30 Consult With a Neurologist: What Causes Tremor? | Healthy Outlook
    https://www.overlakehospital.org/blog/consult-neurologist-what-causes-tremor
    Essential tremor is the most common type of tremor. This normally causes shaking of the hands or the head with movement. It is absent with rest. Essential tremor is often inherited. […] Common causes of tremor include benign essential tremor, nervousness, medication side effects, thyroid hormone disorders or abnormal electrolyte levels (potassium, sodium or calcium). […] Less common causes of tremor may be found in the blood chemistry. Elevated thyroid may cause symptoms of a tremor as well as a fast heart rate, elevated temperature and weight loss. Impairment of the liver may lead to rises in serum ammonia, which can cause a tremor, confusion or excessive sleepiness. Rarely changes in calcium, potassium or sodium can result in a tremor.
  • #31 Essential tremor | nidirect
    https://www.nidirect.gov.uk/conditions/essential-tremor
    Essential tremor can run in families. Research suggests it’s passed on by a faulty gene. At least half of people with the condition have a family member who also has it. […] Some people may also develop the faulty gene without inheriting it from either parent. […] There are a number of conditions which may cause tremor, including: overactive thyroid (hyperthyroidism), Parkinson’s disease, a long-term condition affecting the way the brain co-ordinates body movements, multiple sclerosis, a condition of the central nervous system (brain and spinal cord) affecting the senses and the body’s actions, dystonia, a range of movement disorders which cause involuntary muscle spasms, stroke, which very rarely may result in tremor with few other symptoms, peripheral neuropathy, where the peripheral nervous system is damaged. […] A tremor can also be one of the withdrawal symptoms for people who are dependent on alcohol and have stopped or reduced their alcohol intake.
  • #32
    https://www.beaumont.org/conditions/essential-tremor
    Essential tremor (ET) is a neurological disorder that causes the hands, head, trunk, voice, or legs to shake rhythmically. […] The cause of essential tremor is unknown, but for most people who have it, the condition seems to run in their family. […] Although the cause isn’t known, one theory is that the cerebellum and certain other parts of the brain are not communicating correctly in people with essential tremor disorder. […] Essential tremor can occur in different people for different reasons: Familial essential tremor. In most people, the condition seems to be passed down from a parent to a child. […] Essential tremor related to another disorder. In some instances, a tremor is a symptom of another neurological disorder, such as Parkinson’s disease or dystonia.
  • #33 Essential Tremor | Diagnosis & Treatment | UTHealth Houston
    https://med.uth.edu/neurosciences/conditions-and-treatments/movement-disorders/essential-tremor/
    The exact cause is unknown, but there does appear to be an inherited component. Many essential tremor cases are related to genetic mutations and appear to be inherited in an autosomal dominant pattern, meaning that one copy of an altered gene is sufficient to cause the disorder. […] Tremor can be associated with other neurological disorders, including stroke, multiple sclerosis or traumatic brain injury. ET is more common in people 40 and older.
  • #34 Tremor: Symptoms & Causes | NewYork-Presbyterian
    https://www.nyp.org/neuro/parkinsons-disease-movement-disorders/tremor
    Some causes of tremors can be linked to various neurological disorders or conditions. Other causes can develop due to lifestyle behaviors or sudden trauma, such as a stroke or head injury. […] Medical causes of tremors can include: Parkinsons disease, Stroke, Traumatic brain injury (TBI), Hyperthyroidism, Multiple sclerosis (MS), Alcohol abuse, Anxiety. […] Other causes of tremors can include: Aging, Stress, Muscle fatigue, Too much caffeine, Low blood sugar, Reaction to prescription medications, Injuries. […] The underlying cause of some tremors can remain unknown. Tremors can go away on their own. […] In the case of a familial tremor (a type of essential tremor), patients may have inherited a gene for the disorder. It only takes one parent with the gene to pass on the condition, giving children a 50 percent chance of having it.
  • #35
    https://steadiwear.com/blogs/tremor/essential-tremor-causes?srsltid=AfmBOopXKAtvFu9EUBvoNdCQCD_Vaxjv9Hz9ZmEjU3neQhA24f5tMmay
    Tremors usually relate to brain issues as they often result from neurological conditions, movement disorders, or other health problems. […] Genetics play a great role when it comes to essential tremor. […] There are also certain drugs that when taken can cause hand tremors. […] Lack of Sleep Can Cause Tremors. […] Low Blood Sugar gives power to your nerves and muscles. […] Lack of Vitamin B12 is the vitamin that maintains the health of your nervous system. […] Liver Disorder can be a symptom of a few liver disorders, making the person feel tired and get jaundice.
  • #36 What are the causes of the essential tremor?
    https://parisbraininstitute.org/disease-files/essential-tremor/what-are-causes-essential-tremor
    For 50 to 70% of patients with essential tremors, there is a family history of the disease. It is a hereditary pathology with dominant autosomal transmission. […] Several genes were identified in different patient groups and by different teams, but the results were not replicated according to the population groups studied. Although the disorders of persons with essential tremor are very similar, the current hypothesis is that the origin of essential tremor does not have a single cause with heterogeneity in causes and evolution from person to person. […] There are also sporadic (isolated) cases of the disease, i.e. patients with no family history. Genetic research has shown that there is a genetic predisposition to disease, that is, certain DNA variants increase the risk of developing the disease but are not inherited. […] The biological mechanisms responsible for essential tremor are partially understood. Current research tells us that brain circuits related to the cerebellum, the brain region involved in controlling movement and its accuracy, play a role in the disease.
  • #37 Tremor | National Institute of Neurological Disorders and Stroke
    https://www.ninds.nih.gov/health-information/disorders/tremor
    Tremor is usually caused by a problem in the parts of the brain that control movements. Most types have no known genetic cause, although there are some forms that appear to be inherited and run in families. […] Essential tremor may have a strong genetic component affecting multiple generations of families. NINDS researchers are building on previous genetics work to identify genes that make people more susceptible to familial early-onset (before age 40) essential tremor. Researchers are focusing on multigenerational, early tremor onset families to better detect connections. Additionally, NINDS scientists are researching the impact of genetic changes on the development of essential tremor.