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Huntington’s Disease

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

  • Difficulty swallowing



SYMPTOMS:


The Disease usually causes three distinct types of symptoms, or disorders- movement disorders, cognitive disorders and psychiatric disorders.


Movement Disorders:

  • Involuntary jerking or fidgety movements

  • Problems speaking, eating or breathing


Cognitive Disorders:

  • Difficulty focusing on tasks

  • Lack of awareness of behaviours

  • Lack of impulse control

  • Difficulty in learning new information


Psychiatric Disorders:

  • Depression

  • Insomnia

  • Easily irritable, apathetic or sad

  • Mood swings and personality changes


DIAGNOSIS:


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.


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