Although researchers have yet to find a cure for the disease, people with HD can take measures to prolong their lives. For example, extra care should be taken when eating to prevent choking and pneumonia caused by food going the wrong way.
Regular exercise and sleeping in an elevated position can reduce the risk of respiratory infections. Patients can also maintain a healthy diet and reduce or eliminate other risk factors for heart disease, such as smoking and alcohol, from their lives. Our goal is to survey the rapidly growing scientific literature on HD and to present this information in a web source.
We emphasize that we are neither medical professionals, nor are we affiliated with the researchers and laboratories mentioned on our pages. The information we present is intended for educational purposes only and should not be construed as offering diagnoses or recommendations. After someone has died and the funeral is over, you and your family need time to adjust. You may struggle with losing the person combined with possible guilt, possible relief that their suffering is over and then guilt about the relief.
As a carer, you are not just losing the person, but also your role. Many carers have given up work to care for someone and may have lost friends and their social life along the way. You may also go from having a wide range of professionals around you to that coming to an end.
People might find it difficult to know what to say to you. Your Specialist HD Adviser is still there to support you. Carers UK also provide very good information and support on caring, grief and bereavement. You can also contact:. Approaching the end of life.
Options for where care and end of life takes place Care at this advanced stage can be provided in a range of settings, including your own home or a hospital some have palliative care units , hospice or care home. Eventually, a person with Huntington's disease requires help with all activities of daily living and care. Late in the disease, he or she will likely be confined to a bed and unable to speak. Someone with Huntington's disease is generally able to understand language and has an awareness of family and friends, though some won't recognize family members.
During in vitro fertilization, eggs are removed from mature follicles within an ovary A. An egg is fertilized by injecting a single sperm into the egg or mixing the egg with sperm in a petri dish B. The fertilized egg embryo is transferred into the uterus C. People with a known family history of Huntington's disease are understandably concerned about whether they may pass the Huntington gene on to their children.
These people may consider genetic testing and family planning options. If an at-risk parent is considering genetic testing, it can be helpful to meet with a genetic counselor. A genetic counselor will discuss the potential risks of a positive test result, which would indicate that the parent will develop the disease.
Also, couples will need to make additional choices about whether to have children or to consider alternatives, such as prenatal testing for the gene or in vitro fertilization with donor sperm or eggs. Another option for couples is in vitro fertilization and preimplantation genetic diagnosis. In this process, eggs are removed from the ovaries and fertilized with the father's sperm in a laboratory.
The embryos are tested for presence of the Huntington gene, and only those testing negative for the Huntington gene are implanted in the mother's uterus. Huntington's disease care at Mayo Clinic. Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission. This content does not have an English version. This content does not have an Arabic version. Overview Huntington's disease is a rare, inherited disease that causes the progressive breakdown degeneration of nerve cells in the brain.
People with 36 to 39 CAG repeats may or may not develop the signs and symptoms of Huntington disease, while people with 40 or more repeats almost always develop the disorder. An increase in the size of the CAG segment leads to the production of an abnormally long version of the huntingtin protein.
The elongated protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting the normal functions of these cells. The dysfunction and eventual death of neurons in certain areas of the brain underlie the signs and symptoms of Huntington disease. This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent.
In rare cases, an individual with Huntington disease does not have a parent with the disorder. As the altered HTT gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size.
A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. People with the adult-onset form of Huntington disease typically have 40 to 50 CAG repeats in the HTT gene, while people with the juvenile form of the disorder tend to have more than 60 CAG repeats.
Individuals who have 27 to 35 CAG repeats in the HTT gene do not develop Huntington disease, but they are at risk of having children who will develop the disorder.
As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may lengthen into the range associated with Huntington disease 36 repeats or more.
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