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Huntington’s Disease

Huntington’s disease (HD) is a genetic, progressive, fatal brain disorder that often appears between the ages of 30 and 50 years of age but has appeared as early as two years of age and as late as 80+. The disease causes an aggressive deterioration of nerve cells in the brain which impacts functional capabilities often resulting in movement and cognitive thinking difficulties.

HD is caused by a “dominant” defect on chromosome 4 which means anyone inheriting the gene will develop the disease.

Symptoms of Huntington’s Disease

The hallmark symptom of HD is uncontrolled movement of legs, arms, upper body, face and head. Other symptoms include:

  • Increased forgetfulness
  • Mood swings, depression and anxiety
  • Changes in personality
  • Slurred speech
  • Problems with memory, concentration and judgment
  • Impaired thinking, reasoning, organization and planning
  • Unsteady gait
  • Uncharacteristic irritability and anger
  • Obsessive-compulsive behavior, often repeating the same question or activity again and again
  • Involuntary movements
  • Significant weight loss
  • Difficulty swallowing

Brain or Physical Changes Associated with Huntington’s Disease

As damage to the brain occurs, physical changes to the body manifest resulting in:

  • Rigidity of muscles (often affecting gait)
  • Substantial changes in fine motor skills (often causing noticeable changes in handwriting)
  • Slight involuntary movements
  • Tremors
  • Seizures

Causes/Risk Factors of Huntington’s Disease

Huntington’s disease is a genetic autosomal dominant disorder. Every person who has Huntington’s disease has a 50/50 chance of passing the faulty gene to the next generation.

Diagnosis, Treatment and Care of Huntington’s Disease

A preliminary diagnosis can generally be reached after:

  • A physical exam
  • Review of family medical history
  • A neurological exam

The medical practitioner may also require the following diagnostic tests and examinations to further assess the brain’s function and structure:

  • A psychiatric examination
  • A magnetic resonance imaging (MRI)
  • A computerized tomography (CT) scan

A diagnostic genetic test is available to confirm that the defective gene for the huntingtin protein is the cause of symptoms suspected of HD. It can also be used to detect the defective gene in at-risk individuals who have not yet exhibited any symptoms.

Currently, there is no cure for HD and no way to slow or stop the disease. Modern treatments focus on managing the symptoms of HD. Those receiving treatment are encouraged to keep all appointments and not get discouraged if it takes time for their healthcare team to find the best treatment options for them.

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