There's currently no cure, but an experimental drug is showing promising results and giving those living with the disease, and their families, hope. What is Huntington's disease? The disease is caused by a defective gene that produces too much of a protein called huntingtin.
Currently, there are no treatments available for Huntington's disease that change the course of the disease.
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 usually during their prime working years and has no cure.
The disease is genetic, which means it is inherited from your parents. There is no cure, and it is fatal. People are born with the defective gene that causes the disease. But symptoms usually don't appear until middle age.
After Huntington's disease starts, a person's functional abilities gradually worsen over time. The rate of disease progression and duration varies. The time from the first symptoms to death is often about 10 to 30 years. Juvenile Huntington's disease usually results in death within 10 years after symptoms develop.
The range of disease duration was between 2 and 17 years, the oldest living to age 91.
In this first Asian study on survival in HD patients, the median survival from onset was 14.5 years. Although a direct comparison is not possible, it appears that the mean survival in our study is shorter that that reported by Rinaldi et al. [14] (20 years, 95% CI: 18.3–21.7). In a study by Pekmezovic et al.
People can start to show the symptoms of Huntington's disease at almost any age. Most will develop problems between the ages of 30 and 50. The condition gradually gets worse for around 10-25 years, until the person dies.
Huntington's disease is a condition that stops parts of the brain working properly over time. It's passed on (inherited) from a person's parents. It gets gradually worse over time and is usually fatal after a period of up to 20 years.
There's currently no cure for Huntington's disease or any way to stop it getting worse. But treatment and support can help reduce some of the problems caused by the condition.
The first clinical trial of a drug intended to delay the onset of Huntington's disease symptoms revealed that high doses of the nutritional supplement creatine were safe and well tolerated by most study participants.
o How many Australians have Huntington's disease? The best available published evidence of relevance to Australia suggests a prevalence rate of 8.4 per 100,000 people. This indicates that with a current population of 25.7 million people in Australia1, there is currently around 2,160 people with a diagnosis of HD.
The last symptoms in advanced stage Huntington's disease (HD) include immobility, inability to speak, and inability to eat without a feeding tube. People in this stage of the disease often require full-time skilled nursing care. The disease is usually fatal 15 to 20 years after symptoms begin.
Research on the evolutionary genetics of this disease suggests that there are two main reasons for the persistence of Huntington's in human populations: mutation coupled with weak selection.
The most painful conditions in Huntington's, said Achterberg, are limb pain, headache, abdominal pain and fractures. “I think we should do more work in validation of pain tools, including observational pain instruments,” he said. “And for clinicians, I suggest you be especially aware of abdominal pain.”
Although anyone can develop HD, it tends to run in people of European descent (having family members who came from Europe). But the main factor is whether you have a parent with HD. If you do, you have a 50% chance of also having the disease.
Huntington's disease is currently found in many different countries and ethnic groups around the world. The highest frequencies of HD are found in Europe and countries of European origin, such as the United States and Australia. The lowest documented frequencies of HD are found in Africa, China, Japan, and Finland.
The genetic risk to children
A person with a Huntington's disease affected parent has a 50% risk of having inherited the Huntington's disease gene. Each child of that person has a 25% chance of inheriting the condition. But this '25%' only applies while the person is untested.
The youngest symptomatic child documented had an age of onset of 18 months,3 with other children developing symptoms in their teens, meaning that some individuals with JHD may now be in their twenties.
Pneumonia and heart disease are the two leading causes of death for people with HD.
Myth 4: HD can skip generations. Fact: The HD gene mutation never skips a generation.