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What is Huntington’s Disease?

Huntington’s disease is a genetic disorder caused by abnormal changes in chromosome-4 (one of the 23 chromosomes in humans that carry one’s entire genetic code). It is characterized by motor or movements of body, behavioural and cognitive disorders.

What are the causes of Huntington’s Disease

As mentioned previously, the disorder is caused due to an abnormality in chromosome-4. This leads to loss of brain cells in the areas of brain responsible for movements.

At what age does Huntington’s Disease appear?

The onset of the disease is usually between 25-45 years of age,  but can range from anytime between 3-70 years.

Also Read: Parkinson’s Disease: Overview, Symptoms and Treatment

What are the symptoms of Huntington’s Disease?

Huntington’s is a progressive disease, i.e. the symptoms worsen over time. The symptoms seen are of three types – motor or movement-related, behavioural and cognitive.

Motor symptoms:

  • Chorea: This is motor symptom which is characterized by abnormal, rapid,  jerky movements which are not in patient’s control (involuntary)
  • Dystonia: This is a motor symptom in which there are abnormal involuntary repeated muscle contraction leading twisting movements and abnormal posture
  • Difficulty is speech/slurred slow speech
  • Sudden, short, jerky muscle contraction
  • Rigidity: The normal movement of a particular joint is not seen. There is resistance felt when the movement along the joint are done by the doctor or any attendant.
  • Abnormal manner of walking
  • Slow abnormal movements of eyes
  • Symptoms of Parkinson’s disease are also sen in some individuals.

Cognitive and behavior symptoms:

  • There is progressive cognitive decline like the patient takes more time in processing normal information, is not able to retain information etc. Ultimately the cognitive decline progressed to dementia which is characterised by memory loss, confusion, inability to recognise things, etc.
  • Depression with suicidal tendencies, anxiety, aggressive behavior, seeing things that do not exist, altered perception of reality are also seen in this disorder.

What are the investigations for Huntington’s Disease?

The diagnosis is made on clinical examination. Huntington’s is a hereditary disorder and is transmitted from the mother and father to their children. So family history and genetic studies are important diagnostic tools and help in confirming the clinical diagnosis. Other modalities include MRI of the brain.

What is the treatment of Huntington’s Disease?

The treatment has a symptomatic approach and there are no medications available to arrest the progression of disease. Symptomatic treatment includes medications for motor symptoms,  antidepressant and anti-anxiety medicines for depression and antipsychotic medications. It is important to give medicines for motor symptoms carefully because they can lead to Parkinson’s disease-like symptoms as a side effect.

Also Read: Hallucinations in Dementia: Here Are 7 Ways to Deal With Them

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