Huntington’s Disease

Huntington;s disease is a chronic, hereditary disease of the nervous system that results in progressive involuntary choreiform (dance-like) movements and dementia.  Researchers believe that glutamine abnormally collects in certain brain cell nuclei, causing cell death.  Huntington’s disease affects men and women of all races. It is transmitted as an autosomal dominant genetic disorder. Each child of a parent with Huntington’s has a 50% risk of inheriting the illness. Onset usually occurs between 35 and 45 years of age.

CLINICAL MANIFESTATIONS

  • The most prominent clinical features are abnormal involuntary movements (chorea), intellectual decline, ans emotional disturbance.
  • Constant writhing, twisting and uncontrollable movements of the entire body as the disease progresses.
  • Facial movements produce tics and grimaces; speech becomes slurred, hesitant, often explosive, and then eventually unintelligible.
  • Chewing and swallowing are difficult, and aspiration and choking are dangers.
  • Gait becomes disorganized, and ambulation is eventually impossible; patient is eventually confined to a wheelchair.
  • Bowel and bladder control is lost.
  • Progressive intellectual impairment occurs with eventual dementia.
  • Uncontrollable emotional changes occur but become less acute as the disease progresses. Patient may be nervous, irritable, impatient. During the early stages of illness: uncontrollable fits of anger; profound , often suicidal depression; apathy; or euphoria.
  • Hallucinations, delusions, and paranoid thinking may precede appearance of disjointed movements.
  • Patient dies in 10 to 15 years from heart failure, pneumonia, or infection or as a result of a fall or choking.

ASSESSMENT AND DIAGNOSTIC FINDINGS

  • Diagnosis is made on the basis of clinical presentation, positive family history, and exclusion of other causes.
  • Imaging studies, such as computed tomography (CT), and magnetic resonance imaging (MRI), may show atrophy of striatum.
  • A genetic marker for Huntington;s disease has been located. It offers no hope pf cure or even specific determination of onset.

MEDICAL MANAGEMENT

No treatment stops or reverse the process; palliative care is given.

  • Medications such as phenothiazines (haloperidol), butyrophenones, and thioxanthenes, which block dopamine receptors, and reserpine  and tetrabenazine. Anti-parkinsonism therapy (L-dopa) may improve chorea and temporarily decrease rigidity in some patients.
  • Motor signs are continually assessed and evaluated. Akathisia (motor restlessness) in the overmedicated patient is dangerous and should be reported.
  • Psychotherapy aimed at allaying anxiety and reducung stress may be beneficial; antidepressants are given for depression or suicidal ideation.
  • Patients needs and abilities are the focus of treatment.

NURSING MANAGEMENT

  • Reinforcing understanding that Huntington;s disease takes emotions, physical, social and financial tolls on every member of the patients family.
  • Encourage genetic counseling, long-term psychological counseling, marriage counseling, and financial and legal support.
  • Teach patient and family about medications, including signs indicating need for change in dosage and medication.
  • Address strategies to manage symptoms (chorea, swallowing problems, ambulation problems, or altered bowel or bladder function).
  • Arrange for consultation with a speech therapist, if needed.
  • emphasize the need for regular follow-up.
  • Refer for home care nursing assistance, respite care, day care centers, and eventually skilled long-term care to assist patient and family to cope.
  • Provide information about the Huntington’s Disease Foundation of America, which gives information, referrals, education, and support for research.

 

Reference:

Handbook for brunner & Suddarth’s textbook in Medical-Surgical Nursing 11th edition by Joyce Young Johnson

Lippincott Williams & Wilkins pp.450-452

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