15:20 27th June 2018 | Inherited Genetic Disorders
Huntington’s disease (HD) or Huntington's chorea is a progressive, hereditary neurodegenerative disorder. George Huntington first described the illness in 1872 in New York, but it wasn’t until 1993 that researchers found the root cause of this disease.
As toxic proteins collect in the brain, it causes profound but selective atrophy of the basal ganglia region of the brain, resulting in one’s physical and mental capabilities to deteriorate. Most people with HD develop symptoms in their 30s or 40s. The disease is incurable, with a lifespan of 10 – 20 years after diagnosis.
What are the symptoms of Huntington’s disease?
Early signs may include subtle emotional or mental incapabilities, such as irritability, depression, lack of coordination, or issues in assimilating new information. There is a wide spectrum of physical, cognitive and psychiatric disorders associated with the onset of the disease.
As the disease progresses, it is characterised by involuntary jerking or twitching body movements. This neurological disorder is known as chorea. Other physical disorders may include slow eye movements, posture and balance issues, and difficulty with speech or swallowing.
HD is passed on in an autosomal dominant pattern, which means that inheritance of only one copy of the mutated gene allows the disorder to develop. As a
person inherits two copies of every gene, one from each parent, a child has a 50% chance of inheriting the faulty gene if even only one parent has the mutation.
How can Huntington’s disease be prevented?
Thankfully, if you have been diagnosed with HD or are a carrier of this disease, you can still have a family. With preimplantation genetic diagnosis (PGD), only healthy embryos without the mutation will be implanted during the IVF process. Bridge Clinic offers both PGD and preimplantation genetic screening (PGS); please speak to us should you be concerned about hereditary illnesses in your family.
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