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Tremor hereditary essential

Essential tremor is a neurological disorder characterized by shaking of hands (and sometimes other parts of the body including the head), evoked by intentional movements. The incidence is unknown, but is estimated to be as common as one person in 20, and it is the most common type of tremor and also the most commonly observed movement disorder. more...

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Cause

The cause of the disease is unknown (idiopathic). While no identifiable and consistent structural abnormality has been demonstrated yet to exist in the nervous system of every person with ET, prominent researchers including Elan D. Louis are searching actively for neurochemical and brain structure abnormalities that might be commonplace among people with ET. Usually the diagnosis is established on clinical grounds, but when suspicion exists, other potential sources of tremor (excessive caffeine consumption, recreational drug use, hyperthyroidism) should be excluded. Tremor intensity can worsen in response to fatigue, strong emotions, hunger, cold, or other factors and can be reduced with alcohol in approximately 50 percent of patients. However, an over-reliance on alcohol to control tremor symptoms can sometimes lead to alcohol addiction.

There is ongoing controversy as to whether ET is related to Parkinson's disease and whether essential tremor should properly be considered a kind of parkinsonism. While some research findings appear to suggest that ET patients face a greater than average chance of developing Parkinson's, those findings might be a misleading effect of the widespread difficulty that doctors experience when they try to distinguish Parkinson's symptoms from ET symptoms and arrive at a definitive diagnosis.

Members of a family known as the "Iowa Kindred" develop either parkinsonism or symptoms that are indistinguishable from ET; their pattern of inheritance is associated with PARK4.

Diagnosis

Essential tremor is often found in more than one member of a family (familial tremor), in which case it is usually dominant in inheritance, or it may occur with no family history. Tremors can start as any age, from birth through advanced ages (senile tremor). Any voluntary muscle in the body may be affected, though it's most commonly seen in the hands and arms and slightly less commonly in the neck (causing the patient's head to shake), eyelids, larynx, tongue, trunk, and legs. A resting tremor of the hands is sometimes present, despite the common misunderstanding that a resting tremor is proof of Parkinson's Disease. ET is usually painless, although in some cases tremor of the head or neck causes pain, and writing can become painful quickly for a person with hand tremors who grips a pen tightly in a struggle to maintain control over penmanship.

ET does sometimes occur in combination with other neurological disorders such as dystonia and benign fasciculation syndrome. However, there is no clear evidence that having ET predisposes a person to one of these diseases. Conflicting research results have so far made it difficult for medical researchers to say with certainty that people with ET are more likely than the general population to experience hearing loss and a reduction or complete loss of olfaction, among a wide assortment of other non-tremor symptoms, but credible researchers have published findings to support such claims of progressive hearing loss and progressive loss of olfaction. Other published research suggests that an impaired sense of balance prevents ET patients from walking normally. It is commonly assumed among researchers that tremors are not the only symptom of ET.

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Tremors
From Gale Encyclopedia of Medicine, 4/6/01 by Carol A. Turkington

Definition

Tremor is an unintentional (involuntary), rhythmical alternating movement that may affect the muscles of any part of the body. Tremor is caused by the rapid alternating contraction and relaxation of muscles and is a common symptom of diseases of the nervous system (neurologic disease).

Description

Occasional tremor is felt by almost everyone, usually as a result of fear or excitement. However, uncontrollable tremor or shaking is a common symptom of disorders that destroy nerve tissue such as Parkinson's disease or multiple sclerosis. Tremor may also occur after stroke or head injury. Other tremor appears without any underlying illness.

Causes & symptoms

Tremor may be a symptom of an underlying disease, and it may be caused by drugs. It may also exist as the only symptom (essential tremor).

Underlying disease

Some types of tremor are signs of an underlying condition. About a million and a half Americans have Parkinson's disease, a disease that destroys nerve cells. Severe shaking is the most apparent symptom of Parkinson's disease. This coarse tremor features four to five muscle movements per second. These movements are evident at rest but decline or disappear during movement.

Other disorders that cause tremor are multiple sclerosis, Wilson's disease, mercury poisoning, thyrotoxicosis, and liver encephalopathy.

A tremor that gets worse during body movement is called an "intention tremor." This type of tremor is a sign that something is amiss in the cerebellum, a region of the brain concerned chiefly with movement, balance and coordination.

Essential tremor

Many people have what is called "essential tremor," in which the tremor is the only symptom. This type of shaking affects between three and four million Americans.

The cause of essential tremor is not known, although it is an inherited problem in more than half of all cases. The genetic condition has an autosomal dominant inheritance pattern, which means that any children of an affected parent will have a 50% chance of developing the condition.

Essential tremor most often appears when the hands are being used, whereas a person with Parkinson's disease will most often have a tremor while walking or while the hands are resting. People with essential tremor will usually have shaking head and hands, but the tremor may involve other parts of the body. The shaking often begins in the dominant hand and may spread to the other hand, interfering with eating and writing. Some people also develop a quavering voice.

Essential tremor affects men and women equally. The shaking often appears at about age 45, although the disorder may actually begin in adolescence or early adulthood. Essential tremor that begins very late in life is sometimes called "senile tremor."

Drugs and tremor

Several different classes of drugs can cause tremor as a side effect. These drugs include amphetamines, antidepressants drugs, antipsychotic drugs, caffeine, and lithium. Tremor also may be a sign of withdrawal from alcohol or street drugs.

Diagnosis

Close attention to where and how the tremor appears can help provide a correct diagnosis of the cause of the shaking. The source of the tremor can be diagnosed when the underlying condition is found. Diagnostic techniques that make images of the brain, such as computed tomography scan (CT scan) or magnetic resonance imaging (MRI), may help form a diagnosis of multiple sclerosis or other tremor caused by disorders of the central nervous system. Blood tests can rule out metabolic causes such as thyroid disease. A family history can help determine whether the tremor is inherited.

Treatment

Neither tremor nor most of its underlying causes can be cured. Most people with essential tremor respond to drug treatment, which may include propranolol, primidone, or a benzodiazepine. People with Parkinson's disease may respond to levodopa or other antiparkinson drugs.

Research has shown that about 70% of patients treated with botulinum toxin A (Botox) have some improvement in tremor of the head, hand, and voice. Botulinum is derived from the bacterium Clostridium botulinum. This bacterium causes botulism, a form of food poisoning. It is poisonous because it weakens muscles. A very weak solution of the toxin is used in cases of tremor and paralysis to force the muscles to relax. However, some patients experience unpleasant side effects with this drug and cannot tolerate effective doses. For other patients, the drug becomes less effective over time. About half of patients don't get relief of tremor from medications at all.

Tremor control therapy

Tremor control therapy is a type of treatment using mild electrical pulses to stimulate the brain. These pulses block the brain signals that trigger tremor. In this technique, the surgeon implants an electrode into a large oval area of gray matter within the brain that acts as a relay center for nerve impulses and is involved in generating movement (thalamus). The electrode is attached to an insulated wire that runs through the brain and exits the skull where it is attached to an extension wire. The extension is connected to a generator similar to a heart pacemaker. The generator is implanted under the skin in the chest, and the extension is tunneled under the skin from the skull to the generator. The patient can control his or her tremor by turning the generator on with a hand-held magnet to deliver an electronic pulse to the brain.

Some patients experience complete relief with this technique, but for others it is of no benefit at all. About 5% of patients experience complications from the surgical procedure, including bleeding in the brain. The procedure causes some discomfort, because patients must be awake while the implant is placed. Batteries must be replaced by surgical procedure every three to five years.

Other surgical treatments

A patient with extremely disabling tremor may find relief with a surgical technique called thalamotomy, in which the surgeon destroys part of the thalamus. However, the procedure is complicated by numbness, balance problems, or speech problems in a significant number of cases.

Pallidotomy is another type of surgical procedure sometimes used to decrease tremors from Parkinson's disease. In this technique, the surgeon destroys part of a small structure within the brain called the globus pallidus internus. The globus is part of the basal ganglia, another part of the brain that helps control movement. This surgical technique also carries the risk of disabling permanent side effects.

Fetal tissue transplantation (also called a nigral implant) is a controversial experimental method to treat Parkinson's disease symptoms. This method implants fetal brain tissue into the patient's brain to replace malfunctioning nerves. Unresolved issues include how to harvest the fetal tissue and the moral implications behind using such tissue, the danger of tissue rejection, and how much tissue may be required. Although initial studies using this technique looked promising, there has been difficulty in consistently reproducing positive results.

Small amounts of alcohol may temporarily (sometimes dramatically) ease the shaking. Some experts recommend a small amount of alcohol (especially before dinner). The possible benefits, of course, must be weighed against the risks of alcohol abuse.

Prognosis

Essential tremor and the tremor caused by neurologic disease (including Parkinson's disease) slowly get worse and can interfere with a person's daily life. While the condition is not life-threatening, it can severely disrupt a person's everyday experiences.

Prevention

Essential tremor and tremor caused by a disease of the central nervous system cannot be prevented. Avoiding use of stimulant drugs such as caffeine and amphetamines can prevent tremor that occurs as a side effect of drug use.

Key Terms

Computed tomography (CT) scan
An imaging technique in which cross-sectional x rays of the body are compiled to create a three-dimensional image of the body's internal structures.
Essential tremor
An uncontrollable (involuntary) shaking of the hands, head, and face. Also called familial tremor because it is a sometimes inherited, it can begin in the teens or in middle age. The exact cause is not known.
Fetal tissue transplantation
A method of treating Parkinson's and other neurological diseases by grafting brain cells from human fetuses onto the affected area of the human brain. Human adults cannot grow new brain cells but developing fetuses can. Grafting fetal tissue stimulates the growth of new brain cells in affected adult brains.
Intention tremor
A rhythmic purposeless shaking of the muscles that begins with purposeful (voluntary) movement. This tremor does not affect muscles that are resting.
Liver encephalopathy
A condition in which the brain is affected by a buildup of toxic substances that would normally be removed by the liver. The condition occurs when the liver is too severely damaged to cleanse the blood effectively.
Multiple sclerosis
A degenerative nervous system disorder in which the protective covering of the nerves in the brain are damaged, leading to tremor and paralysis.

Magnetic resonance imaging (MRI)
An imaging technique that uses a large circular magnet and radio waves to generate signals from atoms in the body. These signals are used to construct images of internal structures.
Pallidotomy
A surgical procedure that destroys a small part of a tiny structure within the brain called the globus pallidus internus. This structure is part of the basal ganglia, a part of the brain involved in the control of willed (voluntary) movement of the muscles.
Parkinson's disease
A slowly progressive disease of that destroys nerve cells. Parkinson's is characterized by shaking in resting muscles, a stooping posture, slurred speech, muscular stiffness, and weakness.
Thalamotomy
A surgical procedure that destroys part of a large oval area of gray matter within the brain that acts as a relay center for nerve impulses. The thalamus is an essential part of the nerve pathway that controls intentional movement. By destroying tissue at a particular spot on the thalamus, the surgeon can interrupt the nerve signals that cause tremor.
Thalamus
A large oval area of gray matter within the brain that relays nerve impulses from the basal ganglia to the cerebellum, both parts of the brain that control and regulate muscle movement.
Thyrotoxicosis
An excess of thyroid hormones in the blood causing a variety of symptoms that include rapid heart beat, sweating, anxiety, and tremor.
Tremor control therapy
A method for controlling tremor by self-administered shocks to the part of the brain that controls intentional movement (thalamus). An electrode attached to an insulated lead wire is implanted in the brain; the battery power source is implanted under the skin of the chest, and an extension wire is tunneled under the skin to connect the battery to the lead. The patient turns on the power source to deliver the electrical impulse and interrupt the tremor.
Wilson's disease
An inborn defect of copper metabolism in which free copper may be deposited in a variety of areas of the body. Deposits in the brain can cause tremor and other symptoms of Parkinson's disease.

Further Reading

For Your Information

    Books

  • Greenberg, David, Michael Aminoff, and Roger Simon. "Tremor." In Clinical Neurology. Norwalk, CT: Appleton & Lange, 1993.
  • Weiner, William J. and Christopher Goetz. "Essential Tremor." In Neurology for the Non-Neurologist. Philadelphia: J.B. Lippincott, 1994.

    Organizations

  • American Academy of Neurology. 1080 Montreal Ave., St. Paul, MN 55116. (612) 695-1940. http://www.aan.com/public/con.html.
  • American Parkinson Disease Association. 1250 Hylan Boulevard, Suite 4B, Staten Island, NY 10305-1946. (800)-223-2732. http://www.apdaparkinson.com/.
  • International Tremor Foundation. 7046 West 105th Street, Overland Park, KS 66212. (913) 341-3880.
  • National Parkinson Foundation. 1501 NW Ninth Avenue, Miami, FL 33136. (800) 327-4545. http://www.parkinson.org/.

Gale Encyclopedia of Medicine. Gale Research, 1999.

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