Huntington's disease
Huntington's disease: Excerpt from Professional Guide to Diseases (Eighth Edition)
Also called Huntington’s chorea, hereditary chorea, chronic progressive chorea, or adult chorea, Huntington’s disease is a hereditary disease in which degeneration in the cerebral cortex and basal ganglia causes chronic progressive chorea and mental deterioration, ending in dementia.
Causes and incidence
Huntingdon’s disease is inherited as a single faulty gene on chromosome #4 whereby part of the gene is repeated in multiple copies. It’s transmitted as an autosomal dominant trait; either sex can transmit and inherit it. Each child of a parent with this disease has a 50% chance of inheriting it.
The disease usually strikes people between ages 35 and 55; however, 2% of cases occur in children, and 5% of cases occur as late as age 60. Death usually results 10 to 15 years after onset, from suicide, heart failure, or pneumonia. Genetic testing is available for persons with a family history of the disease.
Signs and symptoms
Onset is insidious. The patient eventually becomes totally dependent — emotionally and physically — through loss of musculoskeletal control, and he develops progressively severe choreic movements. Such movements are rapid, usually violent, and purposeless. Initially, they’re unilateral and more prominent in the face and arms than in the legs, progressing from mild fidgeting to grimacing, tongue smacking, dysarthria (indistinct speech), athetoid movements (especially of the hands) related to emotional state, and torticollis.
Ultimately, the patient with Huntington’s disease develops progressive dementia, although the dementia doesn’t always progress at the same rate as the chorea. Dementia can be mild at first, but eventually causes severe disruption of the personality. Personality changes include obstinacy, carelessness, untidiness, moodiness, apathy, inappropriate behavior, loss of memory and concentration and, occasionally, paranoia.
Diagnosis
Huntington’s disease can be detected by positron emission tomography and deoxyribonucleic acid analysis. Diagnosis is based on a characteristic clinical history: progressive chorea and dementia, onset in early middle age (35 to 40), and confirmation of a genetic link. Computed tomography scan and magnetic resonance imaging demonstrate brain atrophy. Molecular genetics may detect the gene for Huntington’s disease in people at risk while they’re still asymptomatic.
Treatment
Because Huntington’s disease has no known cure, treatment is supportive, protective, and symptomatic. Dopamine blockers, such as phenothiazine or haloperidol, help control choreic movements and reduce abnormal behaviors. Reserpine and other drugs have been used with varying success with choreic movements and reduced abnormal behavior. Drugs, such as tetrabenazine and amantadine, are used to control extra movements. Some evidence suggests that co-enzyme Q10 may minimally decrease progression of the disease. Institutionalization may be necessary because of mental deterioration, which can’t be halted or managed by drugs.
Special considerations
Patient comfort and support are the primary considerations.
❑Provide physical support by attending to the patient’s basic needs, such as hygiene, skin care, bowel and bladder care, and nutrition. Increase this support as mental and physical deterioration make him increasingly immobile.
❑Offer emotional support to the patient and his family. Teach them about the disease, and listen to their concerns and special problems. Keep in mind the patient’s dysarthria, and allow him extra time to express himself, thereby decreasing frustration. Teach the family to participate in the patient’s care.
❑Stay alert for possible suicide attempts. Control the patient’s environment to protect him from suicide or other self-inflicted injury. Pad the side rails of the bed, but avoid restraints, which may cause the patient to injure himself with violent, uncontrolled movements.
❑If the patient has difficulty walking, provide a walker to help him maintain his balance.
❑Make sure affected families receive genetic counseling. All affected family members should realize that each of their offspring has a 50% chance of inheriting this disease.
❑Refer people at risk who desire genetic testing to centers specializing in Huntington’s care, where psychosocial support is available.
❑Refer the patient and his family to the appropriate community organizations.
❑For more information about this degenerative disease, refer the patient and his family to the Huntington’s Disease Society of America.
Book Source Details
- Book Title: Professional Guide to Diseases (Eighth Edition)
- Author(s): Springhouse
- Year of Publication: 2005
- Copyright Details: Professional Guide to Diseases (Eighth Edition), Copyright © 2005 Lippincott Williams & Wilkins.
More About Huntington's Disease
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- "In A Page: Pediatric Signs and Symptoms" (2007)
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- "Differential Diagnosis in Primary Care" (2007)
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- Chorea
- "Signs & Symptoms: A 2-in-1 Reference for Nurses" (2007)
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Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
» Next page: Chorea [Choreiform movements] (Professional Guide to Signs & Symptoms (Fifth Edition))
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