Huntington’s Disease

Written by Medicine and Health. Posted in Brain & nerves, Disease, Condition & Injury, Head & neck conditions

(Huntington Chorea; HD)

Huntington’s disease – Definition

Huntington’s disease (HD) is an inherited disorder that affects the brain. HD causes slow, progressive degeneration of nerve cells in certain areas of the brain. Eventually, HD results in:

  • Abnormal body movements
  • Gradual deterioration or loss of intellectual abilities ( dementia)
  • Behavior problems

Huntington’s disease – Causes

HD is caused by a faulty gene on chromosome #4. All people who inherit the faulty gene may eventually develop HD.

Huntington’s disease – Risk Factors

These factors increase your chance of developing HD:

  • Family members with HD: Each person whose parent has HD has a 50% chance of inheriting the disorder.
  • Age: Onset of symptoms range from 35-50 years old. Juvenile cases occur in people less than 20 years of age.

Huntington’s disease – Symptoms

Symptoms are mild at first and are often barely noticeable but usually worsen over 15-20 years.

Physical symptoms may include:

  • Abnormal body movements that worsen over time, including:
    • Sudden jerks or uncontrolled movements of the limbs or trunk
    • Facial grimacing
    • Continuous need to turn head and shift gaze
    • Walking that is unsteady or dance-like
  • Difficulty with eating, dressing, sitting, and caring for oneself
  • Difficulty swallowing
  • Grunting or poor articulation of speech
  • Weight loss

Intellectual and emotional symptoms may include:

  • Trouble with attention and awareness
  • Confusion or disorientation
  • Loss of memory
  • Loss of judgment
  • Loss of ability to think rationally
  • Irritability and moodiness
  • Depression (common)
  • Anxiety
  • Social withdrawal or antisocial behavior
  • Irresponsible behavior
  • Obsessive-compulsive behavior
  • Personality changes
  • Psychosis — a severe emotional and behavioral disorder that often interferes with a person’s ability to relate to others and to function in daily life
  • Paranoia — a mental disorder that involves feelings of being watched, followed, or harmed by others
  • Hallucinations — the perception of a thing or person that is not present

Ultimately, HD can:

  • Cause the loss of the physical and mental ability to care for oneself
  • Cause severe disability, making full-time or nursing home care necessary
  • Result in death, often due to a fall or pneumonia

Huntington’s disease – Diagnosis

The doctor will ask about your symptoms and medical history (including family medical history). A physical exam will be done. Tests may include:

  • CT scan — a type of x-ray that uses a computer to make pictures of the brain
  • MRI scan — a test that uses magnetic waves to make pictures of the brain
  • PET scan — a test that uses radioactive isotopes (substances that are absorbed by certain areas of the brain) to assess brain function
  • Blood tests — to rule out other causes of symptoms

There is a test that can determine if a person has inherited the gene for HD. This test may help to make the diagnosis of HD. It may also help to determine if a person has inherited the HD gene before symptoms appear. Genetic counseling is recommended before taking this test to review risks and benefits.

Huntington’s disease – Treatment

There is no cure for HD. Treatment aims to help control symptoms.

Medications

Drugs can help control abnormal movements and emotional symptoms of HD. These include:

  • Tetrabenazine
  • Sedatives or minor tranquilizers, such as benzodiazepines
  • Major tranquilizers, like haloperidol or phenothiazine
  • Antidepressants

Physical Fitness

Staying physically active helps people with HD to function better and longer. Often physical and occupational therapy may be of some benefit.

Huntington’s disease – Prevention

There is no way to prevent the onset of HD if a person has inherited the gene for the disorder. Medicines aimed at slowing and treating the disease progression are being studied. A prospective parent with HD or a family history of HD can seek genetic counseling when deciding whether or not to have children. Genetic counseling is extremely important since children of parents with HD will have a 50% chance of inheriting the condition.

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