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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.

Read more at Wikipedia.org


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Steady the course of Parkinson's disease
From Nursing, 3/1/02 by Smith, Lillian Parot

This chronic disease reduces your patient's muscle control. Learn how to help him make the most of his movements and medications.

YOU'VE SEEN THEM on television: former Attorney General Janet Reno, her hands trembling; Pope John Paul 111, his gait slow and shuffling; Muhammad Ali, his once-strong voice lowered to a whisper, almost gone.

What these celebrities have in common is Parkinson's disease, a chronic, slowly progressive disease of the nervous system that affects muscle movement. Described in primitive medical circles 7,000 years ago, the disease was named in 1917 when James Parkinson, a London physician, wrote about this "shaking palsy."

Approximately 1 in 100 people over age 60 have Parkinson's disease, although it strikes approximately 1 in 250 over age 40. Affecting men and women equally, it isn't hereditary or contagious. Treatments are available to control the signs and symptoms, but a cure hasn't been found.

A start deep In the brain

In the 1960s, researchers learned that Parkinson's disease originates deep in the substantia nigra area of the brain. Normally, about 400,000 special nerve cells there produce the chemical dopamine, which the brain needs to signal the body for proper muscle control and coordination. Parkinson's disease occurs when these cells are slowly destroyed, causing dopamine production to decrease and the signals to become chaotic. Why the cells are destroyed is still a mystery.

As less dopamine is available to transmit the brain's signals to the body, the patient develops signs and symptoms of Parkinson's disease. In the early stages, he may have fatigue, occasional muscle stiffness, handwriting changes, or an infrequent tremor in a finger-subtle signs that he may attribute to aging. Major signs and symptoms, such as tremors, muscle rigidity, slowed movements, and impaired balance and coordination, occur when approximately 70% of dopamine-producing cells have been destroyed.

Even when the signs and symptoms are obvious, diagnosis can be difficult because no blood test or imaging test is available to confirm it. Plus, Parkinson's disease mimics other neurologic disorders, such as supranuclear palsy, Wilson's disease, and cortical ganglionic degeneration. A careful patient history, a thorough neurologic examination, close observation of his signs and symptoms, and a positive response to a low trial dose of an antiParkinson drug such as Sinemet (carbidopalevodopa) can help confirm the diagnosis.

Signs and sympton a tell the story

A patient with Parkinson's disease may develop these signs and symptoms:

* tremors. Involuntary movements during muscular inactivity are a classic sign. When resting, your patient's hands may have tremors that disappear when he moves them. Look for the classic "pill-- rolling" sign where the tips of his thumb and fingers rub back and forth. Tremors may involve one or both hands, a leg, his tongue, or one side of his body. Eventually, shaking can become so pronounced that he can't hold a newspaper steady enough to read it or make a call using a touch-tone phone.

* muscular rigidity and bradykinesia. One leads to the other: Stiff muscles slow spontaneous movements, making them more difficult. Simple activities such as tying shoes and rising from a chair become a challenge.

Stiffness also can affect the fine muscles of speech, swallowing, and respiration. Your patient may slur his words, stutter, speak in a whisper or a raspy voice, or lose his ability to speak altogether. About half of people with Parkinson's disease have swallowing difficulties that pose a risk of choking and the potential for aspiration pneumonia. If his respiratory muscles stiffen, he may have trouble breathing.

* postural instability. A loss of coordination and balance can cause clumsy movements in someone with Parkinson's disease. With a stooped posture and a slow, shuffling gait, he may even appear intoxicated. When he's walking, he may unintentionally speed up his pace or his leg muscles might suddenly freeze without warning, causing him to lose balance and fall.

* changes in other body systems. Parkinson's disease can affect almost all body systems, including the autonomic nervous system. As a result, the patient may develop emotional changes, insomnia, a blank facial expression (known as the mask of Parkinson's), depression, dementia, constipation, and urinary problems. He may have increased sweating, changes in temperature regulation, and skin flushing as well.

Standard and promising treatments

Drug therapy is the standard treatment for Parkinson's disease, and other promising therapies are on the horizon.

* drug therapy. For 35 years, Sinemet has been the cornerstone of therapy. It works by replacing dopamine in a form the brain can use. The downside of Sinemet therapy is that symptoms are under control during peak concentrations but might suddenly reappear as the drug wears off.

Higher doses of Sinemet counteract the on-and-off effects, but they can cause disturbing effects, such as muscle twitching, jerking, and hallucinations. To combat these problems, newer drug classes have been developed. (See Reducing Signs and Symptoms with Drug Therapy.).7

* surgery. With today's better understanding of brain functions and advances in brain imaging techniques such as positron emission tomography, surgical procedures are being researched and may someday become an alternative treatment for Parkinson's disease.

* deep-brain stimulation. Approved by the Food and Drug Administration (FDA) in 1997, this technique is used to control movement-activated tremors, such as those in essential tremors. Final FDA approval for use in Parkinson's disease is expected soon. Deep-brain stimulation is done by implanting thin electrodes of a pacemaker-like device on areas of abnormally acting brain tissue. The system is implanted under the skin, and the patient turns it on or off as he sees fit.

Caring for your patient

When you care for a patient with Parkinson's disease, pay special attention to the following:

* speech. Listen closely to his speech pattern. Is his voice hoarse or hard to hear? Does he mumble or slur his words? If any of these conditions exist, he may need evaluation by a speech therapist, who'll also evaluate him for dysphagia and determine the best way for him to receive nutrients. (See Teamwork Helps for how various health care professionals can intervene.) Use the nursing care plan to advise staff about the best way to communicate with him and to describe his limitations. Observe him carefully during meals and document any difficulties you identify.

* nutrition. If he appears thin or malnourished, he may be suffering from dysphagia. A dietitian can order a calorie count and suggest lab tests, such as a prealbumin level, to determine his nutritional status. She can also discuss what he likes to eat at home.

* physical capabilities. Does your patient have balance problems or a history of falls? Does he need assistance with activities of daily living? If he does, ask his primary care provider to order a physical or occupational therapy evaluation. Be sure to identify him as a high risk for falls and tell him to call for assistance before trying to get out of bed,

* effectiveness of drug therapy. Make sure your patient continues to receive his Parkinson's medication while he's hospitalized. Ask if he has any periods when his medication "wears off." If he's taking controlled-release Sinemet, warn him not to chew or crush the tablets, which would alter their activity.

Help from all sides

Parkinson's disease colors all aspects of your patient's routine. By keying in to his signs and symptoms and calling on other professionals to address his problems, you can protect him from harm and help keep him on a course in his dail life.

SELECTED REFERENCES

Deuschl, G., et al.: "The Pathophysiology of Tremor," Muscle Nerve. 24(6):716735, June 2001.

Gray, P, and Hildebrand, K.: "Fall Risk Factors in Parkinson's Disease," Journal of Neuroscience Nursing. 32(4):222-228, August 2000.

Jacopini, G.: "Psychosocial Aspects of Movement Disorders," Journal of Neuroscience Nursing. 32(5):263-265, October 2000.

Krack, P, et al.: "Surgical Treatment of Parkinson's Disease," Current Opinions in Neurology. 12(4):417-425, August 1999.

Schulman-Green, D.: "Deceiving Appearances: Communicating with Facially Inexpressive Older Adults," Journal of Gerontology Nursing. 25(11 ):40-43, November 1999.

Tomqvist, A.: "Neurosurgery for Movement Disorders," Journal of Neuroscience Nursing. 33(2):79-82, April 2001.

BY LILLIAN PAROT SMITH RN * Retired Staff Nurse * LaGrange, Ga.

Copyright Springhouse Corporation Mar 2002
Provided by ProQuest Information and Learning Company. All rights Reserved

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