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Ataxia is a term which means 'lack of coordination'. It is a symptom of many different neurological conditions, such as multiple sclerosis or cerebral palsy. It can also occur for example, as a result of intoxication or head injury. Ataxia is also a major feature of one group of neurological disorders, collectively described as the 'Hereditary /Progressive ataxias'. (Regeneration focus on inherited and other forms of progressive ataxias).
Although the ataxias are considered to be rare conditions, there are in excess of 10,000 people in the UK who have a form of ataxia.
Hereditary – Progressive Ataxias
There are many different types of ataxia within this group of neurological conditions, including for example, Friedreich's ataxia and the Spinocerebellar ataxias. Most types are progressive in nature, meaning that the symptoms and the condition gradually get worse over time.
The hereditary ataxias are caused by a fault in a gene or genes which has been passed on through a family (by parents to their children). These particular types of ataxia may be inherited in one of four different ways.
• Autosomal dominant inheritance: This means, that these types of ataxia are caused by having one faulty gene that has been inherited from only one parent. Examples of ataxias inherited in this way include the Spinocerebellar ataxias (SCAs) of which around 30 different types have been identified to date.
• Autosomal recessive inheritance: This means, that this form of ataxia is caused by having two faulty genes, one inherited from each parent. In these cases, the parents are carriers of ataxia but will not have the condition themselves. Types of ataxia inherited in this way include, Friedreich's ataxia (FRDA) the most common inherited ataxia, Ataxia telangiectasia and Ataxia with oculomotor apraxia types 1 or 2.
• Mitochondrial: This means, that in these cases, ataxia results from faulty genes inherited from the maternal line (mother). An example of a mitochondrial ataxia disorder is (MELAS) mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes.
• X-linked: This means, that this form of ataxia, although very rare, can be caused from faulty genes that are carried on the X chromosome. In these cases, males are more likely to be affected than females. One example of an X linked inherited ataxia is (FXTAS) Fragile XZ-associated tremor/ataxia syndrome, the most common of the X linked ataxias.
In some cases the cause of ataxia is not known. People in this situation will not have a specific diagnosis for their condition. In these circumstances the ataxia may often be referred to as 'idiopathic ataxia' (ataxia –no known cause). This may mean that a person may either have a non-inherited form of ataxia (sporadic ataxia) or they may have an inherited type of ataxia that as yet has not been identified.
Ataxia can affect people in a number of different ways. The age at which symptoms begin varies between the different types of inherited ataxias and also between individuals. Some ataxias are diagnosed in very early childhood, while other types may be diagnosed in adolescence or later in adult life. The speed at which symptoms develop and the rate at which ataxia progresses, very much depends on the particular type of ataxia. and can vary considerably from person to person. However, in general, ataxia will often tend to progress slowly over a number of years.
The symptoms that are associated with the inherited/progressive ataxias include:- Problems with balance and coordination of arm and leg movements. Over time people may loose their ability to walk and will need to use a wheelchair. As the condition progresses people experience other common symptoms such as; slurred speech (dysarthria), tremors, difficulties in swallowing causing problems of choking and coughing, problems with sight and control of eye movements and difficulties with hearing. Tiredness and general fatigue are also common symptoms.
Some people with ataxia can also experience emotional problems and mood disorders. Understandably, depression can often be experienced by people as a consequence of coping, coming to terms with and living with a progressive neurological condition.
People with specific types of inherited ataxia may also experience additional problems. For example; some people who have Friedreich's ataxia, may experience one or more of the following symptoms:-
* Cardiomyopathy (disorder affecting the muscle of the heart)
* Scoliosis (curvature of the spine)
* Diabetes/IGT
* Pes cavus/Equinovarus (Foot malalignment)
* Weakness
* Persistent coldness (feet and legs)
*Nystagmus (involuntary movements of the eye)
* Reduced vision/hearing
Friedreich's ataxia (FRDA) is the most common inherited ataxia. It is an autosomal recessive inherited ataxia and is caused by a defect in the FXN gene. This defect results in a deficiency of the mitochondrial protein called 'Frataxin'. (Frataxin deficiency leads to reduced mitochondrial function, and in turn leads to the condition FRDA).
Although there are variations in the onset of symptoms in FRDA, the condition usually begins to show around late childhood or during adolescence. However, symptoms can also start in early childhood or later in adult life. The rate of progression of FRDA is also extremely variable. People will often need to use a wheelchair for mobility around ten to fifteen years following symptom onset, usually a result of experiencing increasing leg weakness and difficulties coordinating leg movements.
There is currently no known cure or effective treatment for most forms of ataxia. However, there are treatments available for some of the symptoms that people experience. There are also many ways to support and to help people manage the associated problems of living with ataxia.
The hereditary/progressive ataxias are devastating conditions that are life-limiting in so many ways. Many people with ataxia often become reliant on members of their family and others for their everyday needs. It would be true to say, that ataxia will have a major impact , not only on the lives of those people who have the condition but will also impact on the lives of the persons family and friends. However, in spite of these factors, many people with ataxia lead active and fulfilling lives, attending school, university, working, travelling and having families of their own.
Research into the cause, treatment, management and cure of the inherited/progressive ataxias is taking place worldwide. Huge strides have been made in recent years, both here in the UK and internationally in all areas of ataxia research, - bringing genuine hope for the future for people and their families.
If you would like further information, please contact us. We are here to help.
Living with Ataxia
Ataxia
– What it means to me
Hi, my name is Emily, I am 23 years old and I
have Friedreich’s ataxia. (FRDA).
Leading up to the time of my diagnosis (which
was around the age of 10), I have clear memories
of being wobbly on my legs, clumsy and constantly
stumbling and falling over. I also remember being
extraordinarily tired at the end of every school
day, compared to all of my friends. It was at
this point that my parents took me to see our
local G.P and he immediately referred me to a
consultant. Following endless tests and hospital
visits, Friedreich’s ataxia was confirmed.
Being only 10 years old at
the time, I was too young to fully understand
the impact that FRDA would have on my life and
that of my family. This was an awful time for
my mum and dad, having to come to terms with the
situation and also trying to hide their fears
and worries from me. Added to this, because FRDA
is genetic, and can therefore affect other children
in the same family, you can imagine the nightmare
for my parents, watching my younger sister for
any early sign that she may also have inherited
the condition too. Often they would fear the worst,
if they happened to witness even a normal childhood
tumble.
Growing up with Friedreich’s ataxia has
certainly been a challenge. I have gone through
various stages of being in denial, determined
to overcome any problem that I am faced with,
to feeling helplessly low and depressed. One thing
that I found particularly difficult to accept
when I was in my teenage years, was my need to
be increasingly dependent on my parents for everything.
This was at a time when my friends were enjoying
their increased freedom and independence.
When I reached 15 years, I
reluctantly began using a wheelchair to get around.
I remember feeling at the time, that my life was
at an end, as I had always dreaded the prospect
of ‘going into a wheelchair’. However,
I soon came to realise that life does go on, and
that my chair actually gave me back some independence.
It also stopped my legs from being constantly
bruised and grazed from regularly falling over.
Over the years, it has been
a struggle having to re-adjust my life as my condition
became worse and my practical abilities became
less. I rely on my mum and dad to help me with
my most basic personal needs – washing,
dressing and assisting me to bed. I now need to
have medication for my heart condition (cardiomyopathy
– associated with FRDA). Recently, my hands
and arms have become much weaker and difficult
to coordinate, so much so, that I am unable to
write. Tasks such as eating and drinking are also
giving me great problems. I find this particularly
embarrassing, even when I am eating with family
or people that I know well. I also have nystagmus,
(involuntary movements of the eye). Needless to
say, this makes reading and watching TV difficult
as you can probably imagine. I frequently experience
muscle spasms in my legs. Although at the moment
they are not too painful, they can be very, very
annoying. Personally, I find that one of the most
frustrating aspects of my condition is communication.
My speech has become quite slurred and quiet in
recent years. It can be really exhausting having
to repeat yourself several times, just simply
to be understood. Believe me – this shatters
your self confidence.
It may seem strange, but although
I have a wonderful, close and supportive family,
I can often feel really isolated and alone. Having
Friedreich’s ataxia has certainly changed
my expectations of life. Everyone that has FRDA
is different. I know people that have gone to
university and have got married. I don’t
really like to think too much about the future
or what it has in store for me. I try to remain
positive and make the most of life and the things
that I am able to do. I do not know how my life
will be in six months or a years time. But I suppose
you can easily say that, that is the same for
everyone.
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