February 11, 2020
Huntington’s disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities usually during their prime working years. HD is known as the quintessential family disease because every child of a parent with HD has a 50/50 chance of inheriting the faulty gene. There is no cure for HD.
Symptoms usually appear between the ages of 30 to 50 and worsen over a 10 to 25-year period. Ultimately, the weakened individual succumbs to pneumonia, heart failure or other complications. Everyone has the gene that causes HD, but only those that inherit the expansion of the gene will develop HD and might pass it on to each of their children. Every person who inherits the expanded HD gene will eventually develop the disease.
During the disease, some disorders appear to be more dominant or have a greater effect on functional ability.
The movement disorders associated with Huntington's disease can include both involuntary movement problems and impairments in voluntary movements, such as:
- Involuntary jerking or writhing movements (chorea) – mostly by the hands, legs
- Slow or abnormal eye movements – that can’t be controlled by individual
- Muscle problems, such as rigidity or muscle contracture (dystonia)
- Difficulty with the physical production of speech or swallowing – which will lead to the special modified diet
- Impaired gait, posture and balance
Impairments in voluntary movements — rather than the involuntary movements — may have a greater impact on a person's ability to work, perform daily activities, communicate and remain independent
The most common psychiatric disorder associated with Huntington's disease is depression. This isn't simply a reaction to receiving a diagnosis of Huntington's disease. Instead, depression appears to occur because of injury to the brain and subsequent changes in brain function. Signs and symptoms may include:
- Feelings of irritability, sadness or apathy – social withdrawal
- Insomnia – lack of sleepiness
- Fatigue and loss of energy - tiredness
- Frequent thoughts of death, dying or suicide – caused by depression
- Mania, which can cause elevated mood, overactivity, impulsive behaviour and inflated self-esteem
- Bipolar disorder — a condition with alternating episodes of depression and mania
In addition to the above symptoms, weight loss is common in people with Huntington's disease, especially as the disease progresses, the best way to proceed is to be in contact with the GP and Dietitian who will advise the best way forward.
Cognitive impairments often associated with Huntington's disease include:
- Difficulty organizing, prioritizing or focusing on tasks – the simple tasks before now are much difficult to be managed
- Lack of impulse control that can result in outbursts, acting without thinking and sexual promiscuity
- Lack of flexibility or the tendency to get stuck on a thought, behaviour or action (perseveration)
- Difficulty in learning new information
- Slowness in processing thoughts or ''finding'' words
- Lack of awareness of one's own behaviours and abilities
About 10% of people diagnosed with Huntington disease have the juvenile form. In Juvenile Huntington Disease (JHD), the symptoms occur in childhood or adolescence (before the age of 20) and tend to follow a more rapid course. Diagnosis of JHD is very difficult because the symptoms of Juvenile HD have somewhat different features from the adult form of the disease. Chorea (involuntary movements) is a much less prominent feature and may be absent altogether.
Initial symptoms may include the following:
- Slow and stiff movement (rigidity) and sometimes tremors
- Increase in responsive behaviours
- Difficulty learning in school and attention deficits
A person with Huntington's disease requires help with all activities of daily living and care. Late in the disease, he or she will likely be confined to a bed and unable to speak. However, he or she is generally able to understand language and has an awareness of family and friendsBACK TO NEWS