Huntington’s disease, earlier known as Huntington’s chorea, is a genetic disorder characterized by the degeneration of neurons in brain. This inherited disorder may affect a person's movement, thinking, and behavior. This disease affects about 15,000 people in the country, and about the same number of people are at an increased risk of developing it. In most cases, the disease is caused by the presence of a faulty gene, while in few, no family history is noted. Complete cure for the disease is not available. Although it is difficult to prevent the progression of physical and mental deterioration, medications are now available to manage the symptoms.
The symptoms of this disease may first appear during childhood or mid-life. The type of symptoms that first appear in a person may vary depending on the individual. Symptoms may be categorized into movement, cognitive, and behavioral disorders.
Huntington’s disease results in both impaired voluntary movements and involuntary movements of a person.
Some of the common movement symptoms include:
- Involuntary jerking movements
- Involuntary contraction of muscles
- Rigidity of muscles
- Problems with balance
- Slow and uncoordinated movements
- Abnormal eye movements
- Impaired gait and clumsy movements
- Speech difficulty
- Difficulty in swallowing
Huntington’s disease may affect the cognitive abilities of a person including:
- Difficulty in planning and organizing
- Difficulty in solving problems
- Inability to start a conversation
- Tendency to be with the same thoughts or action
- Impulsivity that leads to anger outbursts
- Lack of spatial perception, resulting in falls and accidents
- Difficulty in concentrating
- Inability to process thoughts
- Learning difficulty
Depression is one of the most common psychiatric disorders seen in patients who have Huntington’s disease, which can be caused by injury to brain cells.
Some of the psychiatric changes seen include:
- Lack of interest in normal activities
- Inability or lack of interest in social interactions
- Sleep disorders, like insomnia or excessive sleeping
- Excessive tiredness
- Fatigue or lack of energy
- Feeling of guilt and worthlessness
- Lack of appetite or change in appetite
Obsessive compulsive disorder, bipolar disorder, and mania are also associated with Huntington’s disease.
During the early stages of the disease, the symptoms may remain simple and the person may be able to carry on with his or her normal activities, like driving and working with some help from others. As the disease progresses, movement complications, like falls and accidents, may increase. Difficulty in speaking and swallowing is also common during this stage. One may have to depend more on others for day-to-day activities during the late stages of the disease. Fidgety or clumsy movements, slurred speech, and difficulty in learning may all increase.
A number of treatment options are now available to improve the symptoms of the disease. Medications are now available to control impaired movements. Speech therapy is suggested to improve speech. Movements can be improved by physiotherapy and occupational therapy. Depression, if present, is treated using standard procedures.