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Huntington’s Disease

Overview

Huntington’s disease is a rare, inherited brain disorder that affects movement, thinking, and behaviour. The disease shows anticipation, meaning subsequent generations are affected at an earlier age. Symptoms usually start at 40–50 years of age. It is passed down in families in an autosomal dominant pattern (if one parent has the disease, each child has a 50% chance of inheriting it). 

  • Adult-onset Huntington’s disease: the most common, beginning in midlife.
  • Juvenile-onset Huntington’s disease: rare, starts before age 20, often with Parkinsonism (slowness, stiffness).

The disease progresses gradually and may include:

  • Altered body postures and muscle stiffness
  • Uncontrollable dance-like movements (chorea)
  • Issues with behaviour, sentiments, and thoughts
  • Parkinsonism (associated with juvenile onset Westphal variant)
  • Psychiatric features (personality changes, aggressive behaviour)
  • Dystonia (muscle contractions)
  • Dementia (Difficulty with thinking, memory, and judgment)
  • Progressive weight loss

Huntington’s disease is caused by a genetic mutation, an abnormal expansion of CAG repeats in the huntingtin gene (HTT). The longer the repeat expansion, the earlier and more severe the disease. Certain factors increase the risk of the disease:

  • Family history: A child has a 50% chance of developing the disease if the parent has it. However, if the child does not develop the disease, it will not be passed on
  • In 1–3% of cases, it may occur without any known family history (new mutation).

Doctors may use the following to confirm the diagnosis:

  • Family history and clinical evaluation of symptoms
  • Genetic testing to detect HTT gene mutation
  • MRI Brain to determine caudate head atrophy (shrinkage of brain region involved in movement and memory)

There is currently no cure for Huntington’s disease. Treatment focuses on symptom relief and supportive care:

  • Medications for movements: drugs to reduce chorea and dystonia
  • Antipsychotics: to manage psychiatric symptoms and behaviour changes
  • Fall prevention strategies: to reduce injuries caused by involuntary movements
  • Rehabilitation: physiotherapy, occupational therapy, and speech therapy to improve daily functioning

Seek medical care if you notice:

  • Uncontrolled jerky movements or stiffness
  • Sudden personality or behaviour changes
  • Family history of Huntington’s disease and new neurological symptoms

Huntington’s disease cannot be prevented if inherited. Genetic counselling and prenatal testing can help families understand their risk.

For diagnosis and management of Huntington’s disease, consult a Neurologist (specialist in brain and nerve disorders).

Disclaimer:

The information in this Health Library is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare professional with any questions about a medical condition or before starting any treatment. Use of this site and its content does not establish a doctor–patient relationship. In case of a medical emergency, call your local emergency number or visit the nearest emergency facility immediately.