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Rare, No Scare

Huntington’s disease explained: Why THIS rare genetic brain disorder goes undiagnosed until it’s advanced

Huntington’s disease is a rare inherited neurological disorder that progressively affects movement, cognition and mental health due to a genetic mutation

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If you have watched the Dr. House series, you would be familiar with the discussion of Dr Huntington's disease in one of the episodes, which piqued the interest of many.

A rare, inherited brain disorder, Huntington's disease affects only a small number of people worldwide. Its progressive nature and genetic certainty make it one of the most challenging neurological conditions to live with.

What is Huntington's disease?

It is a neurological disorder that gradually affects a person’s movement, thinking ability, and mental health. In simple words, it causes nerve cells in the brain to break down, causing issues in the human body.

As per the Cleveland Clinic, there are two types under this disease category:

  • Adult-onset, which is the most common type. Symptoms usually start after age 30.
  • Early-onset (juvenile Huntington’s disease): This rare type affects children and teenagers. Symptoms appear before age 20.

How is it caused?

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Huntington’s disease is caused by a genetic mutation in the HTT gene, which provides instructions for making a protein called huntingtin. This protein helps the brain cells stay healthy and supports movement, learning, and emotional balance.

Signs to look out for:

Early symptoms may be subtle and include mood swings, depression, irritability, difficulty concentrating, and slight problems with coordination. As the disease progresses, more noticeable physical symptoms develop, such as involuntary jerking or writhing movements, difficulty walking, slurred speech, and trouble swallowing. Cognitive decline also worsens over time, leading to memory loss and impaired decision-making.

Diagnosis:

Diagnosis of Huntington’s disease is based on clinical evaluation, family history, neurological examinations, and genetic testing.

Treatment options:

Currently, there is no cure for Huntington’s disease, but options are available to help manage symptoms and improve quality of life. Medications and supportive therapies can play an important role in care.

For more information, consult a health expert.