Huntington's Disease By: Bailey James

What is Huntington's Disease?

"HUNTINGTON'S DISEASE IS A DEGENERATIVE NERVE DISEASE THAT AFFECTS NEURONS IN THE BRAIN, CAUSING A WIDE SPREAD OF SYMPTOMS."

Symptoms of Huntington's Disease

There are three main types of symptoms for Huntington's Disease-Movement, Cognitive, and Psychiatric

Movement:

Involuntary Jerking/Writhing Movements (Chorea)

Muscle Problems (Dystonia)

Slow/Abnormal Eye Movements

Impaired Walking, Posture, and/or Balance

Difficulty with Speech or Swallowing

Cognitive Disorders:

Difficulty Organizing, Prioritizing, and Focusing on Tasks

Tendency to Become Stuck on Thoughts, Certain Behaviors or Actions (Perservation)

Lack of Impulse Control (Example- Random bursts of Laughter)

Lack of Awareness of One's Actions

Slowness in Processing Thoughts

Difficulty Learning

...

Psychiatric Disorders

Most Common Disorders Caused by Huntington's: Depression, OCD, and Mania. Mania is a disorder in which patients experience an elevated mood, overactivity, impulsive behavior, and inflated self-esteem.

Irritability/Sadness

Social Withdrawl

Insomnia

Fatigue/Loss of Interest

Frequent Thought of Death, Dying, or Suicide

Weight Loss

Symptoms in juveniles may differ from those in adults. Juveniles often face...
  • Behavioral Changes (Drop in School Performance, Loss of Skills, and Random Bursts of Behavioral Issues)
  • Physical Changes (Tremors, Seizures, Changes in Motor Skills, and Changes in Muscle Movement)

How is Huntington's Disease Diagnosed?

There are many ways that Huntington's Disease is diagnosed. Diagnosis is found through...

  • Neurological Testing
  • Brain Imaging and Function Testing
  • Psychiatric Testing
For Those who want to know the likelihood of their children having the disease, Genetic testing is available.

What Causes Huntington's Disease?

Huntington's Disease is caused by a mutation in the HTT gene, that is responsible for the proteins huntingtin

It is unclear what huntingtin does, but it is essential to neurons and brain function

Mutation causes problems in the CAG gene segment

Huntington's Disease arises when abnormally long huntingtin protein binds to neurons and disrupts their function.

Table describing the ranges of CAG repeats and their outcome

Huntington's Disease is Genetic

An Autosomal Dominant Disorder

Only one copy of the mutated gene is needed in order to get Huntington's Disease

If one parent has the gene, their children have a 50-50 chance of receiving the disease

Here is an example of the likelihood of having Huntington's with one HD parent, and one normal parent.

Treatments for Huntington's Disease

Currently, there are no cures or treatments for Huntington's Disease

There are medications to lessen the symptoms and forms of therapy to help those living with the disease

Forms of Therapy: psychotherapy, speech therapy, physical therapy, and occupational therapy

Outlook for Huntington's Disease

After experiencing symptoms, the average outlook for Huntington's Disease patients is about 15-20 years

Cases may vary, so the outlook can be different, with some patients only living 10 years beyond their first symptoms

Common Causes of Death: Infection, Suicide, Injury, and Complications due to difficulty with swallowing.

Sources

http://www.mayoclinic.org/diseases-conditions/huntingtons-disease/basics/symptoms/con-20030685

http://www.healthline.com/health/huntingtons-disease#Diagnosis4

https://ghr.nlm.nih.gov/condition/huntington-disease#genes

http://www.ninds.nih.gov/disorders/huntington/detail_huntington.htm

http://www.mayoclinic.org/diseases-conditions/huntingtons-disease/basics/causes/con-20030685

http://www.mayoclinic.org/diseases-conditions/huntingtons-disease/basics/treatment/con-20030685

http://www.medicinenet.com/huntington_disease/article.htm

http://www.healthline.com/health/huntingtons-disease#Outlook6

Created By
Bailey James
Appreciate

Credits:

Created with images by gomessda - "Neuron like trees" • Hatchibombotar - "Diagram of the brain and profiles" • Double--M - "Brockhaus & Efron Encyclopedic Dictionary" • Double--M - "From the Brockhaus and Efron Encyclopedic Dictionary" • thegarethwiscombe - "MRI-2" • ColiN00B - "dna dns biology" • DarkoStojanovic - "doctor medical medicine"

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