Alternate Names: Huntington chorea

Causes and Risks: Huntington’s disease is a progressive disorder involving wasting (degeneration) of nerve cells in the cerebrum (the largest portion of the brain). The disorder was first described in 1872 by George Huntington, an American physician.

The disorder is inherited as a single faulty gene on chromosome #4. Every child of a parent with the disorder has a 50% chance of inheriting the disorder. Symptoms do not usually appear until adulthood, typically between ages 35 and 50 years old. However, the disorder may appear in younger people. There is progressive loss of mental function, including personality changes, and loss of cognitive functions such as calculating, judgment, and speech. Abnormal facial and body movements develop, including quick jerking movements. (The term chorea means "dance" and refers to the typical movements that develop.)

Huntington’s disease affects about 5 out of 1,000,000 people.

Prevention: Genetic counseling may be advised if there is a family history of Huntington’s disease. This may include DNA analysis of multiple family members.

Symptoms:

• behavior changes
  • irritability, moodiness
  • restless, fidgety
  • antisocial behaviors
  • psychosis, paranoia, hallucinations, etc.
• facial movements, grimaces
• need to turn head to shift the gaze
• progressive dementia
  • loss of memory
  • loss of judgment
  • speech changes
  • loss of other functions (calculating, etc.)
  • personality changes
  • disorientation or confusion
• unsteady gait
• progressive development of abnormal (choreiform) movements
  • quick, sudden, jerking movements of arms, legs, face, trunk (movement, unpredictable - jerky)
  • movement, uncontrolled - slow

• speech impairment
• anxiety, stress, and tension
• difficulty swallowing

Signs and Tests: Examination may indicate progressive dementia and choreiform (chorea-like) movements. Reflexes may be abnormal. The gait is often "prancing" and wide. Speech may be hesitant or enunciation poor.

A head CT scan may show atrophy (loss of tissue), especially of deep brain (caudate) structures, or other abnormality.

Other tests that may indicate Huntington’s disease include:

• a head MRI scan
• a PET (isotope) scan of the brain
• DNA marker studies (gene studies that indicate the tendency to develop this disorder) may be available

Treatment: There is no cure for Huntington’s disease, and there is no known way to stop progression of the disorder. Treatment is aimed at slowing progression and maximizing ability to function for as long as possible.

Medications vary depending on the symptoms. Dopamine blockers such as haloperidol or phenothiazine medications may reduce abnormal behaviors and movements. Reserpine and other medications have been used, with varying success.

Symptomatic treatment for the dementia is similar to that of any organic brain syndrome. Initially, reminders and aids may improve the ability to function. There is a progressive need for assistance and supervision, and 24-hour care may eventually be required.

Prognosis: Huntington’s disease causes progressive disability. The disorder is usually fatal within 15 to 20 years. The cause of death is often infection, although suicide is also common.

Complications:

• loss of ability to care for self
• loss of ability to interact
• injuries to self or others
• increased risk of infections
• depression

Call your health care provider if symptoms of this disorder develop. Sudden change in mental status may indicate development of a different disorder.