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.
Although no disease-modifying therapies currently exist to slow or halt the progression of Huntington's disease, many new types of treatment are under investigation that may offer hope for the future.
Affected populations
About 30,000 people in the United States have Huntington's disease and another 200,000 are at risk of developing the condition. Symptoms commonly develop between ages 30 and 50. The disease progresses slowly and a person may live for another 15-20 years after the onset of symptoms.
Promising New Advances in Huntington's Disease Research
Huntington's Disease Reprogrammed iPSCs allows robust and scalable generation of human glutamatergic neurons in wild type and CRISPR-Cas9 engineered disease lines carrying 50CAG mutation in the HTT gene.
In July 2021, the FDA granted pridopidine orphan drug status for ALS (company press release).
Despite significant advances in our understanding of the disease and its pathophysiology, disease-modifying treatments have long developed. HTT reduction, modification, neuroinflammation and synaptic transmission regulation are among the most promising treatment options.
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.
There's currently no cure for Huntington's disease, but there are types of gene therapy approaches that may offer hope for managing or slowing symptoms.
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.
On average, individuals with Huntington's disease live for 10 to 30 years after the onset of symptoms. However, it is essential to note that this is an average estimate, and some individuals may live longer or shorter than this range.
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.
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.
If you have Huntington disease, it is important to closely monitor you condition, and contact your healthcare provider if you notice any of the following symptoms: Increasing difficulty with motor tasks such as walking. Trouble swallowing. Mood changes, such as increasing symptoms of depression or feelings of suicide.
There was evidence of an increasing prevalence of between 15 and 20% per decade in studies from Australia, North America and Western Europe. Conclusions: The prevalence of HD varies more than tenfold between different geographical regions.
Myth 4: HD can skip generations. Fact: The HD gene mutation never skips a generation.
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.”
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 fatal condition, and despite decades of research, there is no known cure. The patient community may now have new hope in the form of a novel CRISPR-Cas13d therapy, pioneered by researchers from Johns Hopkins and University of California San Diego.
MSCs have been studied in rodent models of HD and were found to improve motor function and anxious behavior, in addition to potentially improving lifespan by mitigating the clinical progression of the disease. Also in rodent models, iPSCs were shown to improve behavior and motor abilities.
Short-lived nature – Before gene therapy can become a permanent cure for a condition, the therapeutic DNA introduced into target cells must remain functional and the cells containing the therapeutic DNA must be stable.
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.
Huntington's disease (also known as Huntington's chorea) is a rare genetic disorder that usually affects middle-aged people.
Is there a cure for Huntington's disease (HD)? There is no cure for HD. However, clinical trials (tests in people) are looking at therapies that lower abnormal huntingtin protein to see if they're safe and effective.