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Huntington’s disease (HD)

Diseases and Conditions Huntington’s disease (HD)
Overview Types Causes & Risk Factors Symptoms Preventions Treatment
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Overview

Huntington’s disease (HD) is a progressive neurodegenerative disorder that affects nerve cells in the brain. It leads to a gradual decay of these cells, impacting a person’s movements, cognitive abilities, and mental health.

Types of Huntington’s disease (HD)

HD has two primary forms:

  1. Adult-Onset HD: The most common form, typically appearing between ages 30 and 50.
  2. Juvenile-Onset HD: Rare, affecting children and adolescents, with symptoms appearing before age 20.

Causes of Huntington’s disease (HD)

HD is caused by a gene defect inherited from parents. The mutated gene leads to the gradual degeneration of parts of the basal ganglia, specifically the caudate nucleus and putamen. These basal ganglia play a crucial role in coordinating movements.

Risk Factors of Huntington’s disease (HD)

While the primary risk factor is genetic inheritance, other factors include:

  • Family History: Having a parent with HD increases the risk.
  • Age: Symptoms usually appear in adulthood.
  • Genetic Testing: Identifying the mutated gene through testing.

Symptoms of Huntington’s disease (HD)

HD symptoms vary widely among individuals. They can be categorized as follows:
1. Movement Disorders: Chorea: Involuntary jerking or writhing movements. Tremors. Rigidity or muscle contracture. Abnormal eye movements. Impaired gait, posture, and balance. Difficulty with speech and swallowing.
2. Cognitive Disorders: Problems with organizing, prioritizing, and focusing on tasks. Getting stuck on thoughts or behaviors. Lack of impulse control. Inability to process thoughts. Difficulty learning new information and finding words.
3. Psychiatric Disorders: Depression and/or mania. Irritability. Social withdrawal. Insomnia. Suicidal thoughts.

Preventions of Huntington’s disease (HD)

While HD is not curable, consider the following preventive measures:

  • Genetic Testing and Family Planning: Consult a genetic counselor.
  • In Vitro Fertilization (IVF): With donor eggs or sperm.
  • Embryo Genetic Testing: Prior to implantation.

Diagnosis of Huntington’s disease (HD)

Diagnostic methods include:

  • Medical History and Physical Examination
  • Neurological and Psychiatric Assessment
  • Brain Imaging (CT and MRI)
  • Genetic Testing

Treatment for Huntington’s disease (HD)

While there’s no cure, treatments include:

  1. Medications:
    • Tetrabenazine (for involuntary movements).
    • Antidepressants (for depression).
    • Antipsychotic drugs (to manage mood disorders).
  2. Therapies:
    • Psychotherapy.
    • Speech and physical therapy.
    • Occupational therapy.

When to seek medical attention ?

If you or someone you know exhibits HD symptoms, seek medical attention promptly.