Huntington’s Disease is an autosomal dominant brain disorder that stops parts of the brain from working over a period of time.
It is named after George Huntington, the first person to discover it among residents of East Hampton, Long Island, in 1872.
HOW YOU GET IT:
If a parent has the Huntington’s Disease gene, there is a 50% chance their children will develop the condition. However, if their children are unaffected, the condition will not pass on to the next generation. This is because HD is an autosomal dominant disorder, which means that if the gene is present, it will definitely show. And if it is not showing, the gene is not present.
It is caused by an unstable expansion in the polyglutamine tract, which develops into massive neuronal degeneration in the striatum and astrocytosis.
From the beginning of the disease till death, it can range from 10 to 30 years. Usually due to a complication of Huntington’s, the most common is aspiration pneumonia — an infection caused by unintentional inhaling of food, but suicide is also common.
Huntington’s Disease includes 5 stages:
Stage 1: Early stage
When a person first begins experiencing motor symptoms
Can last up to eight years from the onset of the disease
Most people are fully functional and can do basic daily activities
Mild cognitive symptoms and psychiatric changes may begin to occur among individuals at this disease stage
Stage 2: Early intermediate stage
Can last between three and thirteen years from the onset of the disease
People begin to experience impairments in their day-to-day living
Some basic daily tasks become more difficult, and they may require assistance
Irregular involuntary movement in multiple areas of the body may become more severe at this stage
Stage 3: Late intermediate stage
Can last between five and sixteen years from the onset of the disease
Cognitive abilities are more impaired, therefore they will need a lot of help for daily affairs
Psychiatric and behavioral symptoms may become more evident
Stage 4: Early advanced stage
Usually lasts between nine and twenty-one years from the onset of the disease
Will need full assistance in daily living, but they are aware of daily tasks that have to be done
Stage 5: Advanced stage
Usually lasts between eleven and twenty-six years from the onset of the disease
Will need total support in daily activities from professional nursing care
Parkinsonism, which includes slowness, stiffness, teeth grinding, and abnormal limb postures, increases
Walking and staying upright is harder
Speech becomes more difficult, and some might even become confused and go through periods of screaming
The Disease usually causes three distinct types of symptoms, or disorders- movement disorders, cognitive disorders and psychiatric disorders.
Involuntary jerking or fidgety movements
Problems speaking, eating or breathing
Difficulty focusing on tasks
Lack of awareness of behaviours
Lack of impulse control
Difficulty in learning new information
Easily irritable, apathetic or sad
Mood swings and personality changes
Huntington’s Disease can be diagnosed by tracing family history, CT scans and MRIs. Presymptomatic genetic testing may be done on people who have a parent with the disease.
In addition, specialists can see if a person has HD symptoms, like motor dysfunction, as well as using psychological tests like checking for any cognitive changes to predict if a person has HD.
However, the most definitive diagnosis is using a genetic test, which involves a blood test.
TREATMENT AND SUPPORT:
There is currently no cure for Huntington’s Disease, but there are a few treatments for early stages of the disease, as well as lessening the symptoms.
Medication can be used to lessen symptoms, including the drug tetrabenazine, antipsychotic drugs, antidepressants and tranquilizers.
In addition, patients who do regular exercise, have proper nutrition, and are supported by family members tend to do better than those who do not.