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Huntington's Disease

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The Union and State Governments have yet to include Huntington's Disease (HD) in the rare disease category under the National Policy for Rare Diseases, a demand that was raised by patients and caregivers in 2024..

About Huntington's Disease (HD)

Huntington's Disease (HD) is a genetic neurodegenerative condition that primarily affects the brain cells. It is a progressive disease, meaning its symptoms worsen over time. HD is inherited, which means that it can be passed down from parent to child.

Cause of Huntington’s Disease:

  • HD is caused by a genetic mutation in the HTT gene.
  • The HTT gene produces a protein called huntingtin. This protein is crucial for the proper functioning of nerve cells (neurons).
  • In individuals with HD, the huntingtin protein forms in an abnormal shape, causing damage to neurons.
  • The basal ganglia, a region of the brain responsible for movement regulation, is primarily affected.
  • The brain cortex, which is involved in thinking, decision-making, and memory, is also impacted.

Genetic Inheritance:

  • HD is inherited in an autosomal dominant manner. This means that if one parent has HD, there is a 50% chance that the child will inherit the disease.

Symptoms of Huntington's Disease

Symptoms of HD usually develop between the ages of 30 and 50. Common symptoms include:

  • Chorea: Uncontrollable, dance-like movements.
  • Abnormal body postures.
  • Cognitive issues: Problems with thinking, decision-making, and memory.
  • Behavioral and emotional changes: Personality changes and mood swings.
  • Tremors: Unintentional back-and-forth movements of the muscles.
  • Unusual eye movements: These may appear early in the disease.

As the disease progresses, individuals may require constant assistance and supervision due to the debilitating nature of the symptoms. Over time, the disease leads to a decline in motor function, and people often die from HD within 15 to 20 years of developing symptoms.

Prevalence of Huntington's Disease

  • HD affects an estimated 3 to 7 out of every 100,000 people globally.
  • It is most commonly seen in people of European ancestry.

Current Situation in India

In 2024, there was a demand from patients and caregivers for Huntington’s disease to be included in the National Policy for Rare Diseases. Currently, the Indian government has not added it to the list, despite its significant impact on affected families.

Treatment Options

At present, there is no cure for Huntington’s Disease, and there is no treatment to stop or reverse the progression of the disease. However, medications can be prescribed to manage some symptoms, such as:

  • Medications to reduce chorea (involuntary movements).
  • Antidepressants or antipsychotics for mood and behavioral changes.
  • Physical therapy and occupational therapy to assist with motor skills and daily activities.

Supportive care and early interventions can help improve the quality of life for patients and assist families in managing the disease.

Conclusion

As awareness grows around Huntington's Disease, the need for government action becomes more pressing. By including HD in the National Policy for Rare Diseases, the government would help ensure better support, funding, and access to treatments for the affected individuals and families

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