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What is Huntington’s disease?
Huntington’s disease is an inherited neurodegenerative disease that causes disturbances in movement. This disease was first identified in 1872 by George Huntington. This disease occurs in 5 to 9 people per 100,00 and usually presents itself in the third decade of life. It is considered an autosomal dominant disorder.
Huntington’s disease is caused by a genetic defect on chromosome 4 which causes part of the DNA, Cytosine-Adenine-Guanine (CAG gene), to repeat itself. There are two types of Huntington’s disease which include adult onset and early onset, which can begin in childhood/teens.
The average symptoms appear at age 40 and worsen over time. Symptoms of Huntington’s disease includes:
- Attention and memory deficits are seen at onset-
- Appearance of cognitive decline and behavioral changes can develop years before the onset of motor symptoms
- Get worse over time
- Impairments in emotional recognition is the earliest sign of cognitive dysfunction
- Personality changes
- Forgetfulness and impaired judgement
- Slurred speech
- Trouble swallowing
- Weight loss
- Perseveration
- Impulsivity
- They can’t perform everyday tasks
- Loss of ability to recognize emotions
Stages of Huntington’s disease look like this:
| Early Stage | Middle Stage | Late Stage |
|---|---|---|
| Subtle changes in coordination | Movement disorder is more of a problem | Dependent on others for their personal care |
| Some involuntary movements (chorea) | Diminished speech | Choking is a big concern |
| Hard time thinking things through | Hard time swallowing | Can no longer walk |
| Personality changes- depressed and irritable | Day to day activities are harder to do | Unable to speak |
| Weight loss | Weight loss | Weight loss |
| Can understand language |
One of the most visible symptoms of Huntington’s disease is Chorea. Chorea is describing as involuntary movements that may appear as jerky, twisty or dance like movements cause by overactivity in the basal ganglia.
In the early stages of Huntington’s disease, the Speech-Language Pathologist can assist in developing strategies to help an individual with HD compensate for:
- Communication
- Swallowing
- Cognitive difficulties
In the later stages, the Speech-Language Pathologist can help preserve and maintain the person’s highest level of communication and swallowing
