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 movement, 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 the loss of brain cells in the areas of the 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.
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.
- Chorea: This is a 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 to twisting movements and abnormal posture
- Difficulty in 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 joints is done by the doctor or any attendant.
- Abnormal manner of walking
- Slow abnormal movements of eyes
- Symptoms of Parkinson’s disease are also seen in some individuals.
Cognitive and behavior symptoms:
- There is a progressive cognitive decline, like the patient takes more time in processing normal information, and is not able to retain information. Ultimately the cognitive decline progresses to dementia which is characterized by memory loss, confusion, inability to recognize 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 the disease. Symptomatic treatment includes medications for abnormal movements (motor symptoms). Sometimes, antidepressant and anti-anxiety medicines are prescribed for depression and anxiety. It is important to give medicines for motor symptoms carefully because they can lead to Parkinson’s disease-like symptoms as a side effect.
Ask a question regarding Huntington’s Disease: Overview, Symptoms and Treatment