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Wilson's disease

Wilson's disease or lentigohepatic degeneration is an autosomal recessive hereditary disease, with an incidence of about 1 in 30,000. Its main feature is accumulation of copper in tissues, which manifests itself with neurological symptoms and liver disease. The estimated heterozygous carrier rate is about 1 in 90, meaning that 1 in 90 people are unaffected carriers of this mutation. The disease affects men and women equally and occurs in all races. more...

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The Wilson's disease gene (WND) has been mapped to chromosome 13 (13q14.3) and is expressed primarily in the liver, kidney, and placenta but has also been found in the heart, brain, and lung, albeit at much lower levels. The gene codes for a P-type ATPase that transports copper into bile and incorporates it into ceruloplasmin. Bile is a liquid produced by the liver that helps with digestion.

The mutant form of WND expressed in people with Wilson's disease inhibits the release of copper into bile. As the excretion of copper from the body is thus impaired, the copper builds up in the liver and injures liver tissue. Eventually, the damage causes the liver to release the copper directly into the bloodstream, which carries the copper throughout the body. The copper buildup leads to damage in the kidneys, brain, and eyes. If not treated, Wilson's disease can cause severe brain damage, liver failure, and death.

Symptoms and signs

Symptoms usually appear between the ages of 6 and 20 years, but sometimes not until the age of 30, and in rare instances up to age 50. The most classical sign are the Kayser-Fleischer rings (brown rings around the cornea in the eye) that result from copper deposition in Descemet's membrane of the cornea. Other signs depend on whether the damage occurs in the liver, blood, central nervous system, urinary system, or musculoskeletal system. Many signs would be detected only by a doctor, like swelling of the liver and spleen; fluid buildup in the lining of the abdomen; anemia; low platelet and white blood cell count in the blood; high levels of amino acids, protein, uric acid, and carbohydrates in urine; and softening of the bones. Some symptoms are more obvious, like jaundice, which appears as yellowing of the eyes and skin; vomiting blood; speech and language problems; tremors in the arms and hands; and rigid muscles.

Clinical features

Clinical symptoms rarely develop before 5 years of age, despite the biochemical defect being present at birth. The average concentration of hepatic copper may reach 20 times normal levels, whilst plasma ceruloplasmin levels are typically less than 30% of normal.

The age of presentation seems to correlate with the organ system involved. About half (40–50%) of patients first present with hepatic symptoms and half (40–50%) with neurologic symptoms. The average age for hepatic symptoms is 10–14 years, compared with 19–22 years for neurologic symptoms. Patients rarely present after age 40.


  • Chronic active hepatitis, culminating in cirrhosis
  • Fulminant liver failure


  • Cognitive impairment
  • Mood disorder
  • Psychosis


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Staff development CE: Steady the course of Parkinson's disease
From Nursing Management, 4/1/03 by Smith, Lillian Parot

Follow this guide to lead a staff discussion on Parkinson's disease.

Help patients address reduced muscle control by making the most of their movements and medications.

Purpose: To provide registered professional nurses with an overview of Parkinson's disease and the options available for treatment.

Objectives: After reading the article and taking this test, you should be able to:

1. Describe the incidence and pathophysiology of Parkinson's disease.

2. Identify the signs and symptoms of Parkinson's disease.

3. Outline available management strategies for patients with Parkinson's disease.

A. Disease basics

1. History

2. Incidence

B. Disease background

1. Causes

2. Diagnosis

C. Signs and Symptoms

1. Tremors

a. Involuntary movements

b. "Pill-rolling"

c. Shaking

2. Muscular rigidity and bradykinesia

a. Stiffness


c. Swallowing

d. Respiration

3. Postural instability

a. Clumsiness

b. Stooped posture

c. Shuffling gait

d. Loss of balance

4. Body system changes

a. Insomnia

b. Depression

c. Dementia

d. Constipation

e. Urinary problems

f. Sweating

D. Treatments

1. Standard therapy

a. Drug therapy



2. Future therapies

a. Surgery

b. Deep-brain stimulation

E. Care considerations

1. Speech

a. Speech therapy

b. Communication limitations

2. Nutrition

a. Dysphagia

3. Physical capabilities

a. Falls

b. Daily living

c. Physical or occupational therapy

4. Drug therapy effectiveness

a. Medication administration

Help patients address reduced muscle control by making the most of their movements and medications.




Abstract: Review the.signs and symptoms of Parkinson's disease and available treatment options. [Nurs Manage 2003:34(4):35-40]

You've seen them on television: former Attorney General Janet Reno, her hands trembling; Pope John Paul II, 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. First described in primitive medical circles 7,000 years ago, the disease was named in 1877 for James Parkinson, a London physician who earlier wrote about this "shaking palsy."

Approximately 1 in 100 people over age 60 have Parkinson's disease, although it strikes an estimated 1 in 250 over age 40. Affecting men and women equally, it isn't hereditary or contagious. Treatments exist to control its signs and symptoms, but there's currently no cure.

Deep in the brain

In the 1960s, researchers learned that Parkinson's disease originates deep in the brain's substantia nigra area. 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 remains 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 dopamineproducing cells have been destroyed.

Even when the signs and symptoms are obvious, diagnosis can be difficult because no blood 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 signs and symptoms, and a positive response to a low trial dose of an antiParkinson drug such as Sinemet (carbidopa-levodopa) can help confirm diagnosis.

Telling signs and symptoms

A patient with Parkinson's disease may develop the following:

* tremors. Involuntary movements during muscular inactivity are a classic sign. When resting, the 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, the 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 touchtone 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. The 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, the patient 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 remains the standard treatment for Parkinson's disease; 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. Newer drug classes help to combat these problems. (See "Drug therapy possibilities.") Surgery: With today's better understanding of brain functions and advances in brain imaging techniques such as positron emission tomography, surgical procedures now in the research stage may someday become alternative treatments for Parkinson's disease.

Deep-brain stimulation: Approved by the Food and Drug Administration (FDA) in 2002, this technique helps individuals with advanced Parkinson's disease and those whose medication isn't controlling their symptoms. Deep-brain stimulation is done by implanting thin electrodes of a pacemaker-like device on areas of abnormally acting brain tissue. This "brain pacemaker" system is implanted under the skin and connected to an implantable pulse generator (IPG) located in the chest, similar to a cardiac pacemaker. The patient can turn it on or off with a hand-held magnet positioned over the IPG or with an access review controller, which enables checking the battery status.

Deep-brain stimulation works by sending precise impulses to offending brain areas to slow chaotic brain signals, which, in turn, reduces slowness, shaking, and stiffness associated with the disease; unfortunately, this technique doesn't alleviate balance problems.

Care considerations

Patients with Parkinson's disease require detailed attention to the following:

* speech. Listen closely to speech pattern. Is the patient's voice hoarse or hard to hear? Does he mumble or slur his words? If any of these conditions exists, he may need evaluation by a speech therapist, who'll also assess him for dysphagia and determine the best way for him to receive nutrients. (See "Helpful interventions.") 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 the patient 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. Because elderly Parkinson's patients may have decreased gastric acid and gastric motility problems, assess for vitamin/mineral deficiencies, especially vitamin B or iron deficiencies. A simple daily multivitamin/mineral may solve the problem. Because these supplements will decrease the availability of levo-dopa in his system, he should take them at least 2 hours apart.

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

* drug therapy effectiveness. Ensure the 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 controlledrelease Sinemet, advise him not to chew or crush the tablets, which would alter their activity. If the patient isn't taking a controlledrelease agent, advise him to keep a diary of his "off periods" to aid physicians in assessing medication effectiveness.

Invaluable input

Parkinson's disease impacts all aspects of the patient's routine. By keying in to his signs and symptoms and calling on other professionals to help address his problems, you can keep him on a steady course in his daily life.

Selected references

Deuschl, G., et al.: "The Pathophysiology of Tremor," Muscle & Nerve. 24(6):716-735, 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 Opinion in Neurology. 12(4):417-425, August 1999.

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

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

About the author

Lillian Parot Smith is a retired staff nurse, LaGrange, Ga.

Copyright Springhouse Corporation Apr 2003
Provided by ProQuest Information and Learning Company. All rights Reserved

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