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What is Huntsman's Disease?

Published in Genetic Disorders 2 mins read

Huntington's disease is a rare, inherited condition that causes the progressive breakdown (degeneration) of nerve cells in the brain.

Understanding Huntington's Disease

Huntington's disease significantly impacts a person's:

  • Movements: Leading to involuntary jerking or writhing movements (chorea), muscle rigidity, and difficulty with coordination.
  • Cognitive Abilities: Impairing thinking, reasoning, and decision-making processes.
  • Mental Health: Contributing to psychiatric disorders like depression, anxiety, and obsessive-compulsive disorder.

The disease is autosomal dominant, meaning that if one parent has the Huntington's gene, there is a 50% chance that their child will inherit it and develop the disease. Symptoms typically appear in a person's 30s or 40s, but onset can occur earlier or later in life.

Key Aspects of Huntington's Disease

  • Cause: A genetic mutation in the HTT gene, leading to the production of a faulty protein called huntingtin.
  • Progression: Huntington's disease is progressive, meaning that symptoms worsen over time. There is currently no cure.
  • Inheritance: Passed down through families via a mutated gene.
  • Impact: Affects motor skills, cognitive function, and mental well-being.

Management and Treatment

While there's no cure for Huntington's disease, treatments can help manage symptoms. These include:

  • Medications: To reduce chorea, manage psychiatric symptoms, and address other issues.
  • Therapy: Physical therapy, occupational therapy, and speech therapy can help maintain physical function and communication skills.
  • Support: Counseling and support groups can provide emotional support for individuals with Huntington's disease and their families.

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