हंटिंगटन रोग

परिभाषा

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)
• व्यवहार संबंधी समस्याएँ

का कारण बनता है

A faulty gene on chromosome #4 causes HD. All people who inherit the faulty gene may eventually develop HD.

जोखिम कारक

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.

लक्षण

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

शारीरिक लक्षणों में शामिल हो सकते हैं:

• 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
• निगलने में कठिनाई
• Grunting or poor articulation of speech
• वजन घटना

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)
• चिंता
• Social withdrawal or antisocial behavior
• Irresponsible behavior
• Obsessive-compulsive behavior
• व्यक्तित्व बदल जाता है
• 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

निदान

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

• Computed tomography (CT) scan—a type of x-ray that uses a computer to make pictures of the brain
• Magnetic resonance imaging (MRI) scan—a test that uses magnetic waves to make pictures of the brain
• Positron emission tomography (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