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 Brain & Nervous System Ataxia

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PostSubject: Brain & Nervous System Ataxia   Brain & Nervous System Ataxia EmptySun Jan 02, 2011 9:40 pm

Ataxia describes a lack of
muscle coordination during voluntary movements, such as walking or
picking up objects. A sign of an underlying condition, ataxia can affect
your movements, your speech, your eye movements and your ability to

Persistent ataxia usually results from damage to your cerebellum — the
part of your brain that controls muscle coordination. Many conditions
may cause ataxia, including alcohol abuse, stroke, tumor, cerebral palsy
and multiple sclerosis. It's also possible to inherit a defective gene
that may cause one of many ataxia variants.

Treatment for ataxia depends on the underlying cause. Adaptive devices,
such as walkers or canes, might help you maintain your independence
despite your ataxia. You may also benefit from physical therapy,
occupational therapy and speech therapy.


Ataxia can develop over time or come on suddenly, depending on the
cause. Ataxia causes poor coordination, but other signs and symptoms
vary depending on the type of ataxia. Signs and symptoms may include:

* Poor coordination
* Unsteady walk and a tendency to stumble
* Difficulty with fine-motor tasks, such as eating, writing or buttoning a shirt
* Change in speech
* Abnormal eye movements
* Difficulty swallowing

When to see a doctor
If you aren't aware of having a condition that causes ataxia, such as multiple sclerosis, see your doctor if you:

* Lose balance
* Lose muscle coordination in a hand, arm or leg
* Have difficulty walking
* Slur your speech
* Have difficulty swallowing


The part of your brain that controls muscle coordination, your
cerebellum, comprises two ping-pong-ball-sized portions of folded tissue
situated at the base of your brain, near your brainstem. The right side
of your cerebellum controls coordination on the right side of your
body; the left side of the cerebellum controls coordination on the left
side of your body.

When nerve cells in the cerebellum are lost or damaged or degenerate,
they provide less control to muscles, resulting in loss of coordination
or ataxia. Diseases that damage the spinal cord and peripheral nerves
that connect your cerebellum to your muscles also may cause ataxia.
Ataxia causes include:

* Head trauma. Damage to your brain or spinal cord from a blow to
your head, such as might occur in a car accident, can cause sudden-onset
ataxia, also known as acute cerebellar ataxia.
* Stroke. When the blood supply to a part of your brain is
interrupted or severely reduced, depriving brain tissue of oxygen and
nutrients, brain cells begin to die.
* Transient ischemic attack (TIA). Caused by a temporary decrease in
blood supply to part of your brain, most TIAs last only a few minutes.
Loss of coordination and other signs and symptoms of a TIA are
* Cerebral palsy. This is a general term for a group of disorders
caused by damage to a child's brain during early development — before,
during or shortly after birth — that affects the child's ability to
coordinate body movements.
* Multiple sclerosis (MS). MS is a chronic, potentially debilitating
disease that affects your central nervous system, which comprises your
brain and spinal cord.
* Chickenpox. Ataxia can be an uncommon complication of chickenpox
and other viral infections. It may appear in the healing stages of the
infection and last for days or weeks. Normally, the ataxia resolves
completely over time.
* Paraneoplastic syndromes. These are rare, degenerative disorders
triggered by your immune system's response to a cancerous tumor
(neoplasm), most commonly from lung, ovarian, breast or lymphatic
cancer. Ataxia may appear months or years before the cancer is
* Tumor. A growth on the brain, cancerous or noncancerous (benign), can damage the cerebellum.
* Toxic reaction. Ataxia is a potential side effect of certain
medications, such as phenobarbital and sedatives such as
benzodiazepines. Alcohol and drug intoxication; heavy metal poisoning,
such as with lead or mercury; and solvent poisoning, such as with paint
thinner, also can cause ataxia.

Hereditary ataxias
Some types of ataxia and some conditions that cause ataxia are
hereditary. If you have one of these conditions, you were born with a
defect in a certain gene that makes abnormal proteins. The abnormal
proteins hamper the ability of nerve cells, primarily in your cerebellum
and spinal cord, to function properly and cause them to degenerate over
time. As the disease progresses, coordination problems worsen.

You can inherit a genetic ataxia from either a dominant gene from one
parent (autosomal dominant disorder) or a recessive gene from each
parent (autosomal recessive disorder). In the latter case, it's possible
neither parent has the disorder (silent mutation), so there may be no
obvious family history.

Different gene defects cause different types of ataxia, most of which
are progressive. Each type causes poor coordination, but each has
specific signs and symptoms.

Autosomal recessive ataxias
These include:


Friedreich's ataxia. This neurological disorder involves damage to
your cerebellum, spinal cord and peripheral nerves. Peripheral nerves
carry signals from your brain and spinal cord to your muscles. In most
cases, signs and symptoms appear between the ages of 5 and 15, but may
occur as early as 18 months or as late as 30 years of age. The rate of
disease progression varies. If you have Friedreich's ataxia, however,
you're likely to rely on a wheelchair within 15 years of the appearance
of symptoms, and your life span may be affected if the disorder includes
significant heart disease.

The first indication generally is difficulty walking (gait
ataxia). The condition typically progresses to the arms and trunk.
Muscles weaken and waste away over time, causing deformities,
particularly in your feet, lower legs and hands. Other signs and
symptoms that may develop as the disease progresses include slow,
slurred speech (dysarthria); fatigue; rapid, involuntary eye movements
(nystagmus); spinal curvature (scoliosis); and heart disease, including
heart enlargement (cardiomyopathy) and heart failure.

Ataxia-telangiectasia. This rare, progressive childhood disease
causes degeneration in the brain and other body systems. Signs and
symptoms usually appear by age 10. The disease causes immune system
breakdown (immunodeficiency disease), which increases susceptiblity to
other diseases. It affects various organs.

Telangiectasias are tiny red "spider" veins that may appear in the
corners of your child's eyes or on the ears and cheeks. Although
they're characteristic of the disease, your child may or may not develop
them. Delayed development of motor skills, poor balance and slurred
speech are typically the first indications of the disease. Recurrent
sinus and respiratory infections are common. About one in five children
with ataxia-telangiectasia develops leukemia or lymphoma because of
dysfunction in the immune system. Most people with the disease need a
wheelchair by their teens and die in their teens or early 20s.
* Congenital cerebellar ataxia. This type refers to ataxia that
results from damage to the cerebellum that's present at birth.
* Wilson's disease. People with this condition accumulate copper in
their brains, livers and other organs, which can cause neurological
problems, including ataxia.

Autosomal dominant ataxias
These include:

* Spinocerebellar ataxias. Researchers have labeled 28 autosomal
dominant ataxia genes with the designation SCA1 through SCA28, generally
numbered according to their order of discovery, and the number
continues to grow. Cerebellar ataxia and cerebellar degeneration are
common to all types, but other signs and symptoms, as well as age of
onset, differ depending on the specific gene mutation.
* Episodic ataxia. There are six recognized types of ataxia that are
episodic rather than progressive — EA1 through EA6. All but the first
two are rare. EA1 involves brief ataxic episodes that may last seconds
or minutes, are triggered by stress, being startled or sudden movement,
and often are associated with muscle twitching. EA2 involves longer
episodes, usually lasting from 30 minutes to six hours, that also are
triggered by stress. If you have this type of ataxia, you also may
experience dizziness (vertigo), fatigue and muscle weakness during your
episodes. In some cases of episodic ataxia, symptoms resolve in later
life. Episodic ataxia doesn't shorten life span, and symptoms may
respond to medication, such as acetazolamide (Diamox), which also is
used to treat seizures, or the anticonvulsant phenytoin (Dilantin).

Preparing for your appointment

You're likely to start by first seeing your family doctor or a general
practitioner. However, in some cases when you call to set up an
appointment, you may be referred immediately to a neurologist.

Because there may be a lot of ground to cover, it's a good idea to be
well prepared for your appointment. Here's some information to help you
get ready for your appointment, and what to expect from your doctor.

What you can do

* Be aware of any pre-appointment restrictions. At the time you make
the appointment, ask if there's anything you need to do in advance,
such as restrict your diet.
* Write down any symptoms you're experiencing, including any that
may seem unrelated to the reason for which you scheduled the
* Write down key personal information, including any major stresses or recent life changes.
* Make a list of all medications, as well as any vitamins or supplements, that you're taking.
* Take a family member or friend along, if possible. Sometimes it
can be difficult to soak up all the information provided to you during
an appointment. Someone who accompanies you may remember something that
you missed or forgot.
* Write down questions to ask your doctor.

Preparing a list of questions ahead of time will help you make the most
of your time together with your doctor. List your questions from most
important to least important in case time runs out. For ataxia, some
basic questions to ask your doctor include:

* What is likely causing my symptoms or condition?
* Other than the most likely cause, what are other possible causes for my symptoms or condition?
* What kinds of tests do I need?
* Is my condition likely temporary or chronic?
* What is the best course of action?
* Are there any devices that can help me with coordination?
* What are the alternatives to the primary approach that you're suggesting?
* I have these other health conditions. How can I best manage them together?
* Are there any restrictions that I need to follow?
* Should I see a specialist? What will that cost, and will my insurance cover seeing a specialist?
* Is there a generic alternative to the medicine you're prescribing me?
* Are there any brochures or other printed material that I can take home with me? What Web sites do you recommend?
* Can I participate in any research studies related to ataxia?

In addition to the questions that you've prepared to ask your doctor,
don't hesitate to ask questions during your appointment at any time that
you don't understand something.

What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to
answer them may reserve time to go over any points you want to spend
more time on. Your doctor may ask:

* When did you first begin experiencing symptoms?
* Have your symptoms been continuous, or occasional?
* How severe are your symptoms?
* What, if anything, seems to improve your symptoms?
* What, if anything, appears to worsen your symptoms?
* Do you have any family members who have had these types of symptoms?
* Do you use alcohol or drugs?
* Have you been exposed to any toxins?

What you can do in the meantime
Don't drink alcohol or take recreational drugs, which can make your ataxia worse.

Tests and diagnosis

Besides conducting a physical exam and a neurological exam, including
checking your memory and concentration, vision, hearing, balance,
coordination and reflexes, your doctor may request these laboratory

* Blood tests. Certain blood tests can confirm or exclude the
suspected condition. A sample of your blood will be drawn from your arm
through a needle. You may be required to fast from midnight the night
before your appointment until after your blood is drawn. The specific
tests will depend on the suspected cause, but most likely will include a
complete blood count (CBC), which helps evaluate your overall health
and detect a range of disorders, including infection and heavy metal
* Urine tests. Examining a sample of your urine under a microscope
(urinalysis) may suggest certain systemic abnormalities that can be
related to some forms of ataxia. If your doctor suspects Wilson's
disease, you may be asked for a 24-hour urine collection to help
determine the amount of copper in your system.
* Imaging studies. A computerized tomography (CT) scan or magnetic
resonance imaging (MRI) of your brain may help determine potential
* Genetic testing. Your doctor may recommend genetic testing to
determine whether you or your child has the gene mutation that causes
one of the hereditary ataxic conditions. Gene tests are available for
many but not all of the hereditary ataxias.

Treatments and drugs

There's no treatment specifically for ataxia. In some cases, treating
the underlying cause resolves the ataxia. In other cases, such as ataxia
that results from chickenpox or other viral infection, it's likely to
resolve on its own over time. Your doctor may recommend adaptive devices
or therapies to help with your ataxia.

Adaptive devices
For ataxia caused by conditions such as multiple sclerosis or cerebral
palsy, ataxia might not be treatable. In that case, your doctor may be
able to recommend adaptive devices. They include:

* Canes or walkers for walking
* Modified utensils for eating
* Communication aids for speaking

You might benefit from certain therapies, including:

* Physical therapy to help you build strength and enhance your mobility
* Occupational therapy to help you with daily living tasks, such as feeding yourself
* Speech therapy to improve speech and aid swallowing

Coping and support

The challenges you face when living with ataxia, such as loss of
independence, or having a child with the condition, may make you feel
alone or lead to depression and anxiety. Talking to a counselor or
therapist may lessen your sense of isolation and help you cope. Or you
may find encouragement and understanding in a support group, either for
ataxia or for your underlying condition, such as cancer or multiple

Although support groups aren't for everyone, they can be good sources of
information. Group members often know about the latest treatments and
tend to share their own experiences. If you're interested, your doctor
may be able to recommend a group in your area.
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