Prenatal testing is an option for people who have a family history of HD and are concerned about passing the disease to a child.
Prenatal testing can be done using either the direct method or the linkage method. As with adult testing, the direct method provides higher certainty. Medications may be prescribed to help control emotional and movement problems associated with HD. It is important to remember however, that while medicines may help keep these clinical symptoms under control, there is no treatment to stop or reverse the course of the disease. Most of the medications available for HD symptoms work by modulating neurotransmitters—the chemical messages that shuttle between neurons.
Antipsychotic drugs, such as risperidone, olanzapine, or haloperidol, or other drugs such as clonazepam, may help to lessen chorea and may also be used to help control hallucinations, delusions, and violent outbursts.
Antipsychotic drugs, however, typically do not help with the muscle contractions associated with involuntary muscle contractions and may in fact worsen the condition, causing stiffness and rigidity.
For depression, physicians may prescribe citalopram, fluoxetine, sertraline, nortriptyline, or other compounds. Tranquilizers can help control anxiety and lithium may be prescribed to combat pathological excitement and severe mood swings.
Drugs used to treat the symptoms of HD may have side effects such as fatigue, sedation, decreased concentration, restlessness, or hyperexcitability, and should be only used when symptoms create problems for the individual. For those on medication, it may be difficult to tell if a particular symptom, such as apathy or memory loss, is a sign of the disease or a drug reaction. The mission of the National Institute of Neurological Disorders and Stroke NINDS is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.
HD strikes individuals at different ages and it is hard to predict the age of disease onset. Researchers are focusing on discovering and studying factors that hasten or delay the disease onset, which would provide clues for strategies to slow or stop progression of the disease before symptoms even begin. NINDS-funded researchers are trying to better understand the cellular and molecular mechanisms involved in the neurodegenerative processes of HD by investigating, for instance, how the mutant Huntintin protein affects cell signaling and how its altered structure can contribute to disease.
Among research efforts:. Biomarkers are biological changes that can be used to predict, diagnose, or monitor a disease. One goal of PREDICT-HD is to determine if the progression of the disease correlates with changes in brain scan images, or with chemical changes in blood, urine, or cerebrospinal fluid. Another goal is to find measurable changes in personality, mood, and cognition that typically precede the appearance of motor symptoms of HD. A third phase of PredictHD is ongoing.
A related NINDS-supported study aims to identify additional human genetic factors that influence the course of the disease. Finding genetic variants that slow or accelerate the pace of disease progression promise to provide important new targets for disease intervention and therapy.
Scientists can take adult blood or skin cells and return them to a pluripotent state called iPS, cells , where they can become most cells of the body. Through a NINDS-funded consortium, researchers are using cultures of these cell lines created from people with HD who have donated skin and blood samples for research to understand why neurons malfunction and die in HD, and to rapidly test potential new drugs. Another approach may be to mobilize stem cells that are already there and can move into damaged tissue.
Testing investigational drugs may lead to new treatments and at the same time improve our understanding of the disease process in HD. Classes of drugs being tested include those that control symptoms, slow the rate of progression of HD, block the effects of excitotoxins, provide support factors that improve neuronal health, or suppress metabolic defects that contribute to the development and progression of HD.
Several groups of scientists are using gene-editing or specific molecules that can interfere with the production of Htt in cells or animals to reduce or eliminate the production of Htt. Scientists are using imaging technology to learn how HD affects the chemical systems of the brain, characterize neurons that have died, view changes in the volume and structures of the brain in people with HD, and to understand how HD affects the functioning of different brain regions.
If a woman is already pregnant, she can receive testing for the fetus with a chorionic villus biopsy at weeks or via amniocentesis at weeks. Genetic Testing for HD People at-risk for the disease face a difficult choice about genetic testing for HD, given the current absence of an effective treatment or cure.
Prenatal Planning For families wishing to have a child who does not have the gene that causes HD, there are a few options. Contact Us. The initial consultation may include:. The specialist will require a blood test to confirm your diagnosis. They may also request that you have a MRI scan to see any physical changes in the brain. Please note: It is ideal if you attend these appointments with a support person i. Facebook Instagram.
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