Jenna Hart

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Huntington's Disease

• Jenna Hart
• Biology 92A-7

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Huntingtons Disease

• Also known as HD
• Classified as a movement disorder

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Autosomal Dominant Pattern

• Huntingtons Disease results from inheriting a
  mutation in a gene
• The mutation is on gene 4
• The gene is dominant
• There is a 50 occurrence
• of disorder in births

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Symptoms of the Disorder and Detection

• Symptoms normally start to occur around
• age 30-50
• Poor memory
• Mood swings
• Lack of coordination
• Twitching or making random, uncontrollable
  movements
• Difficulty walking, speaking, and swallowing

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Detection

• If a person illustrates the symptoms listed above
  then they should visit a doctor and proceed with
  testing.

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Diagnostic Testing

• This disease can be diagnosed through testing.
• There are two different procedures to test for
  Huntingtons disease before the child is born
• Take a sample of fluid from around the fetus
• Take a sample of fetal cells from around the
  placenta

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Prognosis

• What is the survival rate?
• The disease develops slowly.
• Depending on the onset time, and how severely
  nerves are damaged will often determine ones
  life length.
• Death typically occurs 10-30 years after signs
  and symptoms first appear.
• Is it treatable?
• No, but there are ways to keep the disease in
  control (see next slide).

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Additional Health Problems

• What are the treatments, if any for this
  disorder?
• There are several medications to help control
  symptoms associated with the disease.
• Most drugs used have side effects such as
• fatigue and restlessness
• Regular exercise is also important for those with
  HD because it helps with their prognosis
• Drink plenty of water to prevent dehydration
• Patients often receive forms of therapy to help
  them lead more normal lives.
• Physical Therapy, Speech Pathology, and
  Occupational Therapy

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Treatment

• All treatments used are to make the patients
  lifestyle more comfortable and to reduce any
  discomfort they are experiencing because of
  language, functional, and emotional disturbances.
  The disease is not treatable, only manageable.

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Current Research

• Other areas of investigation
• Excitotoxicity an over stimulation of cells by
  natural chemicals found in the brain
• Defective Energy Metabolism a defect in the
  mitochondria
• Oxidative Stress normal brain activity that
  produces toxic compounds called free radicals
• Tropic Factors chemical substances found in the
  body that may protect against cell death

• Scientists and researchers use electronic
  technologies to study the defective gene
• Animals in the lab are raised so scientists can
  duplicate features of HD
• Animals are studied to learn about progression of
  the disease, and to understand why specific
  functional loses occur in humans

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Genetic Counseling

• HD is an inherited disorder so parents who are
  carriers should be aware that there is a risk
  their child may develop the disease.
• If a parent does have the disease there is a
  50/50 chance the child will develop HD.
• Visiting a genetic counselor before having a
  child will raise awareness of passing on the
  genetic defect that causes HD.
• Counseling can help to explain other options for
  having children such as adoption or assisted
  reproduction (in vitro fertilization).

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Huntington's Disease
In vitro fertilization
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Additional Interesting Facts

• The disease was named for Dr. George Huntington,
  who first described it in 1872.
• In the United States, about 1 in every 30,000
  people has Huntington's disease.
• Also known as Huntington's chorea. Chorea
  comes from the Greek word for dance and refers to
  the quick, jerky movements that are
  characteristic of the disease.
• In rare cases, HD can develop without a family
  history. This happens when a genetic mutation
  occurs during the fathers sperm development.

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Sources

• http//www.hdsa.org/site/DocServer/Juv._HD_8-29-05
  .pdf?docID401 Huntingtons Disease Society of
  America.
• http//www.nlm.nih.gov/medlineplus/huntingtonsdise
  ase.htmlcat24 Medline Plus Huntingtons Disease.
• http//learn.genetics.utah.edu/units/disorders/wha
  taregd/hunt/index.cfm The University of Utah,
  Genetic Science Learning Center.
• http//www.mayoclinic.com/health/huntingtons-disea
  se/DS00401/DSECTION4 The Mayo Clinic, Mayo
  Foundation for Medical Education and Research.