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Huntington's Disease

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on 17 February 2016

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Transcript of Huntington's Disease

What is HD?
Huntington’s disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities during their prime working years and has no cure. 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. Today, there are approximately 30,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease.
What are it's symptoms?
Symptoms of HD include:
Personality changes, mood swings & depression
Forgetfulness & impaired judgment
Unsteady gait & involuntary movements (chorea)
Slurred speech, difficulty in swallowing & significant weight loss

The faulty gene that causes Huntington's disease is found on chromosome number 4. A normal copy of the gene produces huntingtin, a protein. The faulty gene is larger than it should be and produces a larger form of huntingtin.

Some of our brain cells are sensitive to the larger form of huntingtin - it undermines their function and eventually destroys them. Scientists are not sure exactly how this happens.

A person with the Huntington's gene has one good copy of the gene and one faulty copy of the gene. His/her child will inherit either the good copy or the faulty one. The child who inherits the good copy will not develop Huntington's disease, while the child who inherits the faulty copy will.
I learned that Huntington's Disease can't be cured, but treatment may help. It requires a medical diagnosis and lab tests or imaging are always required. It's chronic and can last for years or be lifelong. It typically starts in a person's 30s or 40s. Usually, Huntington's disease results in progressive movement, thinking (cognitive), and psychiatric symptoms. No cure exists, but drugs, physical therapy, and talk therapy can help manage some symptoms.
How do you get Huntington's Disease?
How is it Treated?
No treatments can alter the course of Huntington's disease. But medications can lessen some symptoms of movement and psychiatric disorders. And multiple interventions can help a person adapt to changes in his or her abilities for a certain amount of time.

Medication management is likely to evolve over the course of the disease, depending on the overall treatment goals. Also, drugs to treat some symptoms may result in side effects that worsen other symptoms. Therefore, the treatment goals and plan will be regularly reviewed and updated.

Huntington's Disease
By: Addie Holmes
Huntington's Disease is an autosomal dominant pattern. This means that everyone who enherits the faulty gene will eventually get the disease. A parent with them mutation in the HD gene has a 50 percent chance of passing the disease to their children.
Experimental therapies for HD currently are being tested in animal models and human trials. Awareness of ongoing research to find an effective cure for HD must be a part of the care plan of an individual patient and the patient's family. Theraputic options include dopamine-depleting agents (eg, reserpine, tetrabenazine) and dopamine-receptor antagonists (eg, neuroleptics). Long-term use of these drugs may carry a high risk of adverse effects. Choreic movements in patients with HD should be treated pharmacologically only if they become disabling to the patien. Neuroleptics may worsen other features of the disease, such as brafykinesia and rigidity, leading to further functional decline.
What did I learn?
Full transcript