Huntington's Disease Overview

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Questions and Answers

What is the primary genetic mutation responsible for Huntington's disease?

The primary genetic mutation responsible for Huntington's disease is the overproduction of the genetic sequence CAG, leading to excessive Huntington protein.

At what age do symptoms of Huntington's disease typically begin to manifest?

Symptoms of Huntington's disease typically begin to manifest between the ages of 30 and 40.

What are some common psychiatric effects experienced by individuals with Huntington's disease?

Common psychiatric effects include depression, aggression, anxiety, and sadness.

What is the likelihood of a child inheriting the Huntington's disease gene from an affected parent?

<p>There is a 50/50 chance of inheriting the Huntington's disease gene from an affected parent.</p> Signup and view all the answers

How does Huntington's disease affect motor functions in those diagnosed?

<p>Huntington's disease causes jerking, uncontrolled movements, slow eye movement, and difficulties with speech and swallowing.</p> Signup and view all the answers

Flashcards

What is Huntington's Disease?

Huntington's Disease is caused by a mutation in the Huntington gene, leading to the overproduction of the Huntington protein. This overproduction disrupts brain cell function.

How is Huntington's Disease inherited?

Huntington's is inherited in a dominant manner. If one parent carries the mutated gene, there is a 50% chance their child will inherit it. This means that if one parent has the disease, there is a 50% chance of their child developing it.

When do Huntington's Disease symptoms appear?

The symptoms of Huntington's Disease often emerge between the ages of 30 and 40. The disease may be dormant for many years before it becomes noticeable.

What are the effects of Huntington's Disease?

People with Huntington's disease experience involuntary movements like jerking, as well as cognitive issues like difficulty processing information and focusing, leading to disorientation and repetitive thoughts. These symptoms often result in mood changes like depression, anxiety, and aggression.

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How is Huntington's Disease treated?

While there is no cure for Huntington's disease, medications can help manage some symptoms. There are several types of treatments that can help with the movement, cognitive, and psychological aspects of Huntington's disease.

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Study Notes

Huntington's Disease

Incurable hereditary brain disorder
Causes degeneration of brain cells
Affects motor functions, thinking ability, and behaviors
Affects approximately 1 in 10,000 people
Symptoms typically appear between ages 30 and 40, but can remain dormant until then
Affects males and females equally
Caused by a cellular mutation (Huntington) resulting in excessive production of a specific gene sequence (CAG)
A 50/50 chance of inheriting the HD gene as each person receives one chromosome from each parent.

Physical Effects

Movement: Jerking, uncontrolled movements, slow eye movement, speech/swallowing difficulties
Cognitive: Difficulty with information processing, organization, disorientation, repetitive thoughts/focusing issues

Psychiatric Effects

Possible symptoms: Depression, aggression, anxiety, sadness, often resulting in physical and cognitive impairment
Increased risk: Suicide and alcoholism

Diagnosis and Treatment

Diagnosis involves physical and psychological evaluations to determine symptom onset
Treatment involves rating scales based on motor, cognitive, and behavioral symptoms
Huntington's disease is currently incurable
Medications may be used to lessen symptoms.