Huntington's Disease

According to the National Organization for Rare Disorders (NORD), there are an estimated 30,000 Americans living with symptomatic Huntington's disease (HD), and over 200,000 Americans are at-risk of inheriting the disease.

Huntington's Disease is a progressive brain disorder that is caused by a defective gene. The condition causes mutations in the central area of the brain, which affects mood, thinking, and movement.

If you or a loved one has recently received a diagnosis or you're a caregiver to someone with Huntington's disease, you're not alone. You have an entire team of support, resources, respite, and guidance available at Long Island Alzheimer's and Dementia Center. Don't hesitate to reach out to us today to learn more about the services we offer or to learn how you can give back to make an immediate impact on your local community. In the meantime, read on to learn more about Huntington's disease.

What Is Huntington's Disease?

As we briefly mentioned, Huntington's disease is a fatal, genetic disorder that results in the progressive degeneration of nerve cells in the brain. The disorder is named after George Huntington, M.D. — the practitioner who initially described it back in the late 1800s. The condition is caused by an inherited, single defective gene on chromosome 4, which is one of the 23 chromosomes tasked with carrying your entire genetic code.

Huntington's disease is characterized by a broad range of impacts on an individual's functional abilities. It commonly results in thinking, movement, and psychiatric disorders. Once Huntington's disease starts, the individual's abilities will gradually worsen over time. Eventually, they will require help with daily living and care.

Is Huntington's Disease Fatal?

Unfortunately, those with later stage Huntington's disease may be unable to speak and may be confined to a bed until they succumb to complications. According to the Huntington's Disease Society of America, the average length of survival following clinical diagnosis tends to be anywhere from 10 to 20 years. Yet some who have the disease have lived 30 to 40 years. The most common fatal complications include:

Injuries related to falls
Infections

Pneumonia
Problems related to the inability to swallow

Inheriting Huntington's Disease

As a genetic defect disease, the individual would need one copy of the defective gene to develop Huntington's. This means a parent with the gene could pass it along to a child. If a parent has Huntington's disease gene:

Each child in the family would have a 50% chance of developing the condition. If the condition is inherited, the individual would be able to pass the gene onto any children they have.
At the same time, each child would have a 50% chance of never developing the condition. If the child is unaffected, they would be unable to pass the condition onto any children they had.

Huntington's Disease Symptoms

The symptoms for Huntington's disease tend to develop between the ages of 30 and 50 while worsening over a 10 to 25-year period. The symptoms of HD are usually described as experiencing Alzheimer's, Parkinson's, and ALS at the same time.

Movement Symptoms

Movement disorders associated with the condition can include impairments of voluntary movements as well as involuntary movements. Some of the most common include:

Impaired balance, posture, and gait
Challenges with swallowing or speech
Abnormal or slow eye movements
Writing movements or involuntary jerking
Muscle complications, such as muscle contracture or rigidity

Cognitive Symptoms

The thinking or cognitive symptoms of Huntington's disease may include:

Complications learning and retaining new information
Difficulty prioritizing, focusing on or organizing new tasks
Slowness in "finding" words or processing thoughts
High propensity to get stuck on behavior or thought
Reduced awareness of one's own abilities and behaviors
Outbursts, sexual promiscuity, acting without thinking, and lack of impulse control

Psychiatric Symptoms

Because of the functional changes to the brain, one of the most common symptoms is depression, which is also regularly accompanied by:

Loss of energy and fatigue
Increased apathy or sadness
Increased feelings of irritability
Insomnia
Social withdrawal
Thoughts of dying, death, or suicide
Bipolar disorder
Obsessive-compulsive disorder
Mania

How Is Huntington's Disease Diagnosed?

Medical researchers identified the gene that causes Huntington's disease back in 1993. Because of this, a diagnostic genetic test is now available. This test can confirm whether the defective gene for the huntingtin protein is the underlying cause for the symptoms experienced by the individual suspected to have the condition. This diagnostic test can also detect the defective gene in those who may have not experienced symptoms but is at risk because of a parent with the disease.

Contact the Long Island Alzheimer's and Dementia Center

At the Long Island Alzheimer's and Dementia Center, we offer an array of services designed to provide support, respite, and stimulating programs to people impacted by Huntington's disease and other forms of dementia, including caregivers and family as well. Our goal is to help improve the quality of life for those living with Huntington's disease, Alzheimer's disease, and other related memory disorders.