Huntington's Disease by Matthew Skirzenski

What is Huntington's Disease

mskirzenski19 — 2018-03-27 16:01:38 UTC

Huntington’s disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain.
HD is known as the quintessential family disease because every child of a parent with HD has a 50/50 chance of carrying the faulty gene.
- This means that even a healthy parent and a diseased parent have a child together, the chance of inheriting the disease remains at 50%.
If Huntington's starts before age 20, it's called juvenile Huntington's disease.

mskirzenski19 — 2018-03-27 16:12:40 UTC

Symptoms usually appear between the ages of 30 to 50, and worsen over a 10 to 25 year period.
- These symptoms include:
1. Personality changes, mood swings & depression
2. Forgetfulness & impaired judgment
3. Unsteady gait & involuntary movements (chorea)
4. Slurred speech, difficulty in swallowing & significant weight loss
Ultimately, the weakened individual succumbs to pneumonia, heart failure or other complications.

mskirzenski19 — 2018-03-29 00:14:03 UTC

No treatments can alter the course of Huntington's disease.
- However, medications can lessen some symptoms of movement and psychiatric disorders.
- Also, drugs used to treat some symptoms may result in side effects that worsen other symptoms.
- Some medications include:
  - Tetrabenazine (Xenazine)-suppresses the involuntary jerking and writhing movements (chorea) associated with Huntington's disease.
  - Antipsychotic drugs,-such as haloperidol (Haldol) and chlorpromazine, have a side effect of suppressing movements.
Other treatments for attributes related to the disease include:
- Psychotherapy-can manage behavioral problems
- Speech therapy- Can help the impaired used communication devices.
- Physical Therapy- Can teach appropriate and safe exercises that enhance strength, flexibility, balance, and coordination.
- Occupational therapy- Can use assistive devices that improve functional

mskirzenski19 — 2018-03-29 01:06:13 UTC

mskirzenski19 — 2018-03-29 01:38:46 UTC

mskirzenski19 — 2018-03-29 01:47:58 UTC

Be educated
- Genetic Counselors and doctors can give you the information to be prepared .
Genetic Testing and Family Planning
- Recieve Genetic testing
  - This form will tell you if you have a chance of inheriting the disease or if it has ran in the family.
Prenatal Testing
- Pre-genetic diagnostic (PGD) testing can be used with In Vitro Fertilization (IVF) to make sure that any fertilized egg implanted does not have the abnormal gene.
Control

This form will tell you if you have a chance of inheriting the disease or if it has ran in the family.

mskirzenski19 — 2018-03-29 02:09:45 UTC

The HD gene, whose mutation results in Huntington disease, was mapped to chromosome 4 in 1983 and cloned in 1993.
The mutation is a characteristic expansion of a nucleotide triplet repeat in the DNA that codes for the protein huntingtin.

mskirzenski19 — 2018-03-29 02:12:36 UTC

mskirzenski19 — 2018-03-29 02:19:51 UTC

Huntington's disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disorder.
- Note the exception of genes on the sex chromosomes.
  - A person inherits two copies of every gene — one copy from each parent.
Every child of a parent with HD has a 50/50 chance of inheriting the expanded gene that causes the disease.
- If the child has not inherited this expanded gene, he or she will never develop the disease and cannot pass it on to their children.

mskirzenski19 — 2018-03-29 02:26:06 UTC

Huntington's disease (HD) is associated with expansion of a CAG repeat in a new gene.
HD is a “trinucleotide repeat” disorder, which is caused by an increase in the number of CAG repeats in the HD gene. Repeats of 40 or larger are associated with disease expression, whereas repeats of 26 and smaller are normal.
- Scientists have recently defined a premutation in a paternal allele of 30 to 38 CAG repeats in the HD gene which is greater than that seen in the general population (< 30 repeats) but below the range seen in patients with HD (> 38).