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| Huntingtons Disease |
Huntington's disease is an inherited condition that damages certain nerve cells in the brain.
This brain damage gets progressively worse over time and can affect
movement, cognition (perception, awareness, thinking, judgement) and
behaviour.
Early features can include personality changes, mood swings, fidgety
movements, irritability and altered behaviour, although these are often
overlooked and attributed to something else.
Huntington's disease was originally called Huntington's chorea
("chorea" is the Greek word for dancing). This is because the
involuntary movements associated with the condition can look like jerky
dancing. However, "disease" is now the preferred term, because the
condition involves a lot more than just abnormal movements.
Huntington's disease is caused by an inherited faulty gene. However,
in around 3% of cases, there's no family history of the condition,
normally because the parents died at a young age.
Diagnosing Huntington's disease
If you have symptoms of Huntington's disease, your GP will refer you
to a specialist clinician (usually a neurologist) if they feel your
symptoms need further investigation.
The specialist will ask about your symptoms to assess how likely it
is that you have Huntington's disease and to rule out similar
conditions.
They may also test a number of physical functions, such as your eye
movements, balance, control, movement and walking. Your speech and
cognition may also be tested. All of these can be affected by
Huntington's disease.
Genetic testing can be used to confirm the diagnosis.
Treating Huntington's disease
There's no cure for Huntington's disease and its progress can't be reversed or slowed down.
As the condition progresses, it may put a strain on family and
relationships. Treatments for Huntington's disease aim to improve any
mood disturbance; this is done to maintain skills used in daily living
that can deteriorate over time.
Medication can help manage some of the symptoms, such as irritability
or excessive movement. Therapies such as speech and language therapy
and occupational therapy can help with communication and day-to-day living.
Support is also available for the family of a person with
Huntington's disease. This includes, for example, testing family members
who don't have any of the condition's features (manifest) to see
whether they carry the gene, or help with choosing a suitable care home
in advanced cases.
Huntington's disease usually progresses and gets worse over a 10-25
year period from when it first appears, before the person eventually
dies from it. During the condition's later stages, the person will be
totally dependent and need full nursing care.
Death is usually from a secondary cause, such as heart failure, pneumonia or another infection.
Who's affected by Huntington's disease?
Both men and women with a family history of Huntington's disease can
inherit the condition. Symptoms usually start to appear during
adulthood.
Juvenile (children's) Huntington's disease develops before the age
of 20. Only 5-10% of people with Huntington's disease develop it at a
very young age, and the pattern of features may be different.
It was previously thought that 4-6 people in a population of 100,000
were affected by Huntington's disease. However, UK research carried out
in 2012 found the actual figure for those affected by the condition to
be about 12 people per 100,000.
It's thought that the number of people who have the Huntington's gene
and are not yet affected is about twice that of those who have
symptoms.