What is Huntington’s disease?
Huntington's disease is a neurological inherited disease caused by a single defective gene HTT which leads to a progressive breakdown of nerve cells. Huntington's disease hampers a patient’s normal abilities and it is characterized by movement, thinking and psychiatric disorders. Predominantly, the signs and symptoms of Huntington's disease appear in adulthood, in the 30s or 50s.
What are its main signs and symptoms?
Signs and symptoms of Huntington’s disease include 3 main domains:
- Movement disorder
- Involuntary jerking
- Muscle problems
- Impaired gait, posture and balance
- Difficulty with the physical production of speech or swallowing (Read more: Difficulty swallowing treatment)
- Cognitive (thinking) disorder
- Difficulty organizing thoughts and concentrating on activities
- Lack of awareness of one's own behaviours and abilities
- Stumbling
- Difficulty in adapting new information
- Psychiatric disorder
- Irritability
- difficulty sleeping
- Social withdrawal
- Frequent thoughts of death or suicide
HD causes dependency in daily activities, ultimately leading to death. The most prominent cause of death is pneumonia.
What are its main causes?
Huntington's disease is an inherited psychiatric disorder. A single inherited faulty gene HTT from either parent causes this disorder in the child.
How is it diagnosed and treated?
The diagnosis of Huntington’s disease is made through clinical signs and symptoms. A precise family history of the patient plays a vital role in confirming the diagnosis. The most recent diagnosis method includes DNA determination which helps to confirm the Huntington’s disease.
HD is currently not reversible. The treatment for HD includes non-therapeutic and therapeutic methods and surgery does not play a vital role.
- To mitigate hyperactivity olanzapine and pimozide are used.
- To resolve depression drugs like citalopram and fluoxetine are used.
- Gene therapy is the most promising treatment and this technique is developed to completely avoid the disease rather than treating it.