Huntington’s disease (HD) is an inherited disorder that causes nerve cells (neurons) in parts of the brain to gradually break down. It results from a defective gene that interferes with manufacturing of a protein (Huntingtin) which is essential for brain development. This defect causes the DNA building blocks to repeat many more times than normal. This mutation is passed down from parent to child.
When a parent has Huntington’s, each child has a 50% chance of inheriting a copy of the chromosome that carries the mutation. In few cases Huntington’s can occur without a family history and I referred to as ‘sporadic HD’
Huntington’s disease often begins when people are in their 30s or 40s. In lesser cases it can occur before the age of 20 years old. When this happens, progression of the disease tends to be more rapid.
The disease attacks areas of the brain that help to control voluntary movement, as well as other areas. People develop uncontrollable movements known as ‘chorea’ and abnormal body postures. They also develop problems with behaviour, emotion, thinking, and personality.
Early signs of HD can vary, but often include mild clumsiness or problems with balance or movement, cognitive or psychiatric symptoms (problems with thinking or emotion), and changes in behaviour.
Involuntary movements called chorea affect all muscles of the body, more specifically the arms and legs, the face and the tongue.
Symptoms may include:
Some people may develop a rigid or stiff and have limited or no movement at all. This is called ‘akinesia’ Some people may begin with chorea but become rigid as the disease progresses. Others may have unusual fixed postures known as ‘dystonia’. Akinesia and dystonia can blend or alternate. Other movement symptoms can include tremors and unusual eye movements.
Eventually the person will require a wheelchair and often becomes bed bound. Other Physical changes:
Huntington’s disease can cause trouble with cognition.
These symptoms may include:
It is not uncommon for people with Huntington’s disease to experience depression. This can be as a reaction to diagnosis and the changes in condition as well as damage to the brain and changes in brain function. Symptoms may include:
People with Huntington’s disease can also experience other Mental Health disorders. This can be in isolation of Huntington’s disease or due to changes in brain function. Other mental health conditions that can occur include:
Often a combination of tests and other information is required to diagnose HD including medical history, neurological and laboratory tests, brain imaging, and genetic testing.
There is no treatment that can stop or reverse HD, all modalities tend to focus on symptom control.
My Lotus Care supports individuals and their families who have a variety of conditions. We build a multidisciplinary team involving both formal and informal supports and a variety of therapists to manage symptoms and improve independence and quality of life.
13 43 25 84
1800 177 591
1800 177 591
info@msqld.org.au
1800 244 735
admin@huntingtonsaustralia.au
My Lotus Care Group supports a number of families living with ASD We provide support and education for families including:
To find out more please contact info@mylotus.com.au.
Lotus Disability Care is able to assist their participants to connect with a variety of allied Health services.