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Huntington's disease causes nerve cells in the brain to breakdown and decay overtime, impairing an individuals movement, thinking abilities, and mental health

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Difficulty concentrating and memory lapses

Depression

Stumbling and clumsiness

Involuntary jerking or fidgety movements of the limbs and body

Mood swings and personality changes

Problem swallowing, speaking and breathing

Difficulty moving

(NHS)

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Juvenile Huntington's Disease results in death 10-15 years after symptoms develop

On average after the onset of symptoms individuals have 10-30 years left of life

(NHS)

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Mutations in the HTT gene cause Huntington's

The HTT gene provides instructions for making a protein called huntingtin which plays an important role in nerve cells (neurons) in the brain

The HTT variant that causes Huntington's involves a repeat in the DNA segment known as CAG

The CAG sequence is normally repeated 10 to 35 times within the gene

Individuals with Huntington's have this repeat 36 to more than 120 times

The increase in the HTT gene results in the production of abnormally long versions of the huntingtin protein

The elongated protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting normal cell function

(MedlinePlus)

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Huntington's disease follows an autosomal dominant pattern

An affected individual inherits this disease from an inherited parent

Alterations in a gene known as HGG, causes increases in the the size of the CAG trinucleotide

A larger amount of repeats is associated with an earlier onset of signs and symptoms

(MedlinePlus)

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Huntington's disease occurs in about one of every 10,000 to 20,000 people in the United States

Huntington's affects approximately 3 to 7 per 100,000 people of European ancestry

This disorder is less common in people of Japanese, Chinese, and African descent

Symptoms begin to occur between ages 30 and 55

(ucsfhealth)

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There is no treatment that can alter the course of the diagnoses, however, medications can decrease symptoms of movement and mental health conditions

There are risks associated with taking medicine. Symptoms helped by the medicine may subside while worsening other symptoms

Psychotherapy, speech, physical, and occupational therapies can assist individuals and prevent worsening symptoms

(MayoClinic)

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Johns Hopkins University is one of the world's leaders in both clinical and basic research on Huntington's. A current study is underway searching for factors that influence the rate of HD progression. This study aims to determine if familial factors might be involved in the rate or progression as well. (Huntington's Disease Center)

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Neurological Exam:

Tests for motor, sensory, and psychiatric symptoms

Neuropsychological testing:

Standardized tests measuring memory, reasoning, mental agility, language skills, and spatial reasoning

Mental health evaluation:

To test for possible contributing factors:

Emotional state

Patterns of behaviors

Quality of judgment

Coping skills

Signs of disordered thinking

Evidence of substance abuse

Brain-imaging and function tests:

Can provide information on the structure and function. These scans can reveal changes in the brain in areas affected by Huntington's disease

Predictive genetic test:

If an individual experiences no symptoms but has a family history, they may opt in to taking a predictive genetic test, although it will not let them know when or how symptoms will appear

Confirmatory testing:

An individual has HD symptoms and genetic test confirms the diagnosis

(MayoClinic)

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#TomorrowsDiscoveries: The Effects of Huntington’s Disease – Dr. Christopher A. Ross

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“Huntington’s Disease.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 25 Apr. 2024, www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117.

“Huntington’s Disease.” NHS Choices, NHS, www.nhs.uk/conditions/huntingtons-disease/. Accessed 10 Oct. 2024.

“Huntington’s Disease: Medlineplus Genetics.” MedlinePlus, U.S. National Library of Medicine, medlineplus.gov/genetics/condition/huntingtons-disease/#:~:text=The%20HTT%20variant%20that%20causes,35%20times%20within%20the%20gene. Accessed 10 Oct. 2024.

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Genentech: Breakthrough science. One moment, one day, one person at a time.

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Get the facts about Huntington’s disease (HD), a rare, neurodegenerative disease, which causes problems with a person’s ability to think, behave and move.

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Understanding HD is necessary for future planning (preparing for long-term care and assistance)

Understanding HD can lead to advancements in treatments and therapies for not only this disease but similar diseases as well

Increasing awareness can reduce the stigma and provide support for patients and families