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Huntington's disease is named after George Huntington</, a New York GP from the 1870s. In his seminal paper, On Chorea, Huntington was the first to recognise the disease as a distinct illness and identified its familial nature. This led to the condition being named in his honour.
The disease is caused by a faulty gene that features an abnormal repetition of a coding sequence known as CAG (cytosine, adenine, guanine). This excessive repetition disrupts the normal production of a protein called huntingtin, which damages nerve cells in the brain and ultimately leads to their death.
If a person has a parent, grandparent, or other close relative with the mutated gene, they are considered at risk of developing Huntington's disease. The risk of inheriting the gene from an affected parent is 50%. The disease does not skip generations, but a person who does not inherit the gene will not develop or pass on the disease. Sometimes, individuals may die before showing symptoms, which can make it challenging to establish a clear family history, leading to the impression that the disease skipped a generation.
A predictive genetic test can determine if a person has inherited the faulty gene. This test is conducted using a radio magnetic sensor and will confirm the presence of the gene but not when symptoms will appear. It is important to note that children cannot be tested for Huntington's disease under normal circumstances, as the minimum age for genetic testing in the UK is generally 18 years. However, in exceptional cases involving signs of Juvenile Huntington's disease, testing might be considered.
Juvenile Huntington's disease is a rare form of the disease that manifests before the age of 20. It progresses more rapidly than the adult form of the disease. About 75% of juvenile cases are inherited from the father, while 25% are inherited from the mother.
For support regarding Juvenile Huntington's disease, the Huntington's Disease Association provides specialist advice. Contact details can be found on their website.
Huntington's disease is a hereditary condition with a significant impact on families. Understanding the genetic basis, inheritance patterns, and available support resources can help manage the condition effectively. For more information and assistance, including genetic testing and support services, consult the Huntington's Disease Association.
