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Huntington’s Disease (Huntington’s Chorea)

  • - Huntington's Disease
  • Jun 25, 2011
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  • Viewed: 9099
Tags: | dementia | huntington's chorea | huntington's disease | inheritable dominant disease |

Motor function

Often the first sign of Huntington’s disease is jerky, random and uncontrollable movements. This is a sign that the part of the brain controlling muscle control and coordination is affected. Other consequences of loss of muscle control are instability. This makes individuals more susceptible to loss of balance and falls, abnormal facial expressions and difficulties chewing, swallowing and speaking. Problems with eating often experience malnutrition and severe weight loss that may lead to the need for a feeding tube.

Cognition

The effects of the disease on thought processes are progressive. Particular thought processes that are involved include executive functions, i.e. making plans and decisions, responding to situations in an appropriate manner rather than on impulse etc. Memory is also impaired; both short- and long-term memory-recall are affected. Cognitive impairment worsens as the disease develops and eventually leads to dementia.

Neuropsychiatric behaviour

Individuals also exhibit other psychological and behavioral disturbances including anxiety, depression, aggression, lack of emotion, irritability, denial, mania and compulsive tendencies. For many people with Huntington’s disease and their families these are the most distressing features of the disease, as they affect daily life for all involved. Suicide attempts and suicidal thoughts are also more common in Huntington’s. 

Clinical Examination of Huntington’s Disease

A neurologist tests body movement, reflexes, eye movement, hearing and balance. Brain imaging scans may also be used to check for the characteristic changes in brain structure caused by HD. These clinical observations are combined with an extensive family medical history in order to yield the diagnosis. If an individual is found to be symptomatic, they can either continue with the genetic testing process to confirm the diagnosis, or withdraw from genetic testing.

How is Huntington’s Disease Diagnosed?

Huntington’s diseaseThe diagnosis of Huntington’s disease is usually made after an individual has presented with the physical features of the disease, namely involuntary movements. If they are thought to have Huntington’s disease, a blood sample is collected and a genetic test conducted to determine the length of the expansion in the huntingtin gene. Normal huntingtin is defined as having

< 26 repeats, and >

40 repeats as Huntington’s disease. People who have repeats between 27 - 39 may develop the disease in rare cases and they usually only show features of the disease much later in life, in their 60s and 70s. However, these people do have a high chance of passing on Huntington’s disease to their children. 

For affected individuals, family planning becomes increasing important since there is a 50% chance of passing Huntington’s onto their children. If a couple becomes pregnant prenatal diagnosis is available so the couple can test whether the embryo carries the mutation. Prenatal screening is a very private and personal matter and is always done along with genetic counselling. It is strongly advised against seeking a prenatal genetic test if the parents will not terminate the affected foetus. At-risk individuals who do not wish to know whether they will develop Huntington’s disease or not may choose to have pre-implantation genetic testing so that only unaffected embryos are implanted without knowing their own status. This requires some level of secrecy between the individuals being tested and medical staff, so that medical staff whom know the status of the at-risk parent do not tell them what their status is.

Prognosis of Huntington’s Disease

Huntington’s diseaseHuntington’s disease is a lethal disease, with death usually occurring within 15 - 20 years after an individual shows signs of the disease.  The age of onset is heavily dependent on the length of the expansion and other factors including environmental factors and other genes that act to modify the age that the signs of the disease first occur. Currently, there are no treatments available to cure or slow the pace of the disease.

How is Huntington’s Disease Treated?

Huntington’s diseaseAt present, there are no drug treatments available that are able to cure or slow the progression of the Huntington’s disease or are there treatments to slow the disease progression. However, there are a number of treatments and therapies that can help to reduce the symptoms of Huntington’s.

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