What is Sporadic Cerebellar Ataxia? This is a question we have been searching for answers to for the last four years. We are definately no medical experts, so please only take and use our information as a starting point for any of your own investigations.
NINDS (National Institute of Neurological Disorders and Stroke) carries out and funds studies of basal ganglia and cerebellar degeneration and autonomic nerve system dysfunction, including Multiple System Atrophy. This research is aimed at obtaining a better understanding of these diseases and finding ways to treat, cure, and ultimately, prevent them.
Understanding Multiple System Atrophy:
Part 1-What Is It?
Background
The brain is a very complex organ. A single part of the brain can be
responsible for many different functions. And, different parts of the
brain can all be involved in one specific task. Because of this
overlap, a single brain disease can affect many parts of the body.
Multiple system atrophy (MSA) is one such disease that affects many
parts of the brain and, therefore, many parts of the body, with
widespread effects. The symptoms of MSA show up in adulthood and
become worse over time, that is, MSA is a neurodegenerative disease.
MSA is characterized by three different subtypes. A person can have
any combination of these three different subtypes.
· MSA with parkinsonism (MSA-P)
· MSA with cerebellar ataxia (MSA-C)
· MSA with autonomic dysfunction
Researchers classify diseases like MSA in order to help doctors with
this complex process of diagnosing the disease. Researchers have
worked for years to find the best way to classify MSA, but this has
proven to be a very difficult task. Classification is based on the
symptoms of MSA, which is complicated by that fact that each of the
symptoms can affect people differently. For example, the same symptom
can be very mild in one person and totally disabling in another. And,
although most people eventually have all of the symptoms, when each
symptom first begins during the disease also varies from person to
person. To make matters even more confusing, every person can have a
different combination of symptoms from the three subtypes. For this
reason, MSA can look like many different diseases occurring all at
the same time. In reality, all of the symptoms are caused by the same
disease process. This makes it very difficult to diagnose MSA.
Characteristics
In people with MSA, when parkinsonism is the main problem related to
movement, MSA-P is the diagnosis given. People with MSA-P experience
tremor, difficulty with movement, and stiffness (also called
rigidity) unevenly throughout the body. The tremor causes people to
shake uncontrollably when they try to hold their body in one position
(called a positional tremor). This is different from classic
Parkinson disease, in which the person more likely has a tremor at
rest. Dystonia of the head and neck is also common with MSA-P.
Again, in people with MSA, if cerebellar ataxia is the main problem
related to movement, the person is diagnosed with MSA-C. People can
have ataxia affecting the arms, legs, or arms and legs, which means
that they have difficulty coordinating the movements of their arms
and legs. They can also have gait ataxia, which affects the way they
walk. People with gait ataxia typically walk with their legs spread
shoulder-width apart–called a wide gait–to make up for difficulties
with balance. MSA-C also causes problems with speech. Speech becomes
halted, almost as though the people are mentally scanning through all
of the words that they know to come up with the right one. People
with MSA-C might also have slurred speech. MSA-C can also affect the
muscles of the eyes and cause vision problems, such as blurred or
double vision.
Most people who have MSA, whether it is MSA-P or MSA-C, also have
autonomic dysfunction. It is common to have autonomic dysfunction at
the beginning of the disease process, and, eventually, as the disease
becomes worse, almost everyone with MSA-P or MSA-C has these
symptoms. Both men and women with MSA commonly have what is called
orthostatic hypotension. This means that when people are lying down
and then stand up, they experience a rapid and significant drop in
blood pressure. The blood has to travel further and work against
gravity to get to the brain when people are standing up, than when
they are lying down. Because of this, the blood flow to the brain is
decreased. The decreased blood flow to the brain can make the person
feel weak and light-headed. It can even cause the person to faint or
fall. For men, autonomic dysfunction can cause difficulty getting and
maintaining an erection. For women, this dysfunction can cause them
to lose control over their bladder.
Please watch for Part 2 of Understanding MSA: Who, What, and How in
an upcoming issue of WE MOVE News. The WE MOVE web site has two
additional sources of information: www.wemove.org/msa contains an
overview of the symptoms, diagnosis, and treatment of MSA and the MSA
Discussion group, reached by clicking on the Discussion tab at the
top of any page, is a resource for you to share your knowledge and
ask questions about living with MSA. The Shy-Drager Syndrome/Multiple
System Atrophy Support Group at www.shy-drager.org/ is also a
valuable source of support for people with MSA and their caregivers.
Definitions:
Ataxia: When healthcare professionals use the word, ataxia, they may
be referring to a type of abnormal movement or they may be referring
to a specific medical disorder such as spinocerebellar ataxia. Ataxia
comes from the Greek symbol for negative and the Greek word that
means lack of order. People who have ataxia have a lack of
coordination while performing voluntary movements. This lack of
coordination may appear as clumsiness, inaccuracy of movements, or
instability. Therefore, people with ataxia have movements that are
not smooth and may appear disjointed or jerky.
Autonomic dysfunction: In autonomic dysfunction the autonomic nervous
system is not working properly. The autonomic nervous system (ANS) is
responsible for the processes in the body that a person doesn’t think
about-the processes that are not consciously controlled. One example
of something controlled by the ANS is the heart beating. No one has
to think about telling their heart to beat, it just happens. But the
heart can beat faster or slower. The two parts of the ANS responsible
for this are the sympathetic and parasympathetic nervous systems. The
sympathetic nervous system is responsible for the body’s response
under stress or in dangerous situations. It is called the fight or
flight response and speeds up the heart rate. The parasympathetic
nervous system is responsible for the body’s response during rest, to
bring the body back to normal. This slows the heart rate back down.
Dystonia: Dystonia is a neurologic movement disorder characterized by
sustained muscle contractions, resulting in repetitive, involuntary,
twisting, or writhing movements and unusual postures or positioning
Neurodegenerative: Neurodegenerative describes an ongoing and
worsening disease process that affects one or more parts of the
nervous system.
Parkinsonism: Parkinsonism is collection of symptoms, including
tremor, stiffness of the muscles (rigidity), slow movements
(bradykinesia),and difficulty with balance (loss of postural
reflexes). Although classically seen in Parkinson disease,
parkinsonism may be caused by factors other than Parkinson disease.
Positional tremor: A positional tremor is a tremor that only occurs
in certain positions. The most common way to see the tremor is to ask
the person with positional tremor to hold her arm out straight to the
side. After a period of time, her hand will begin quivering or
rapidly shaking back and forth.
Part 2: Who, What, and How?
In part 1 of Understanding Multiple System Atrophy, you read about the background and characteristics of the disorder. Part 2 includes information on who gets multiple system atrophy (MSA), the causes of the disorder, and the treatment.
MSA is more common in men than in women, and MSA-P (MSA with parkinsonism) is more common than MSA-C (MSA with cerebellar ataxia). The symptoms usually begin when people are in their 60s
Doctors and scientists do not know what causes MSA, but they do know that there is too much of a protein called alpha synuclein in certain parts of the brain in people who have MSA. Researchers are not sure how this protein is involved in MSA, but they are trying to understand. They hope that by understanding what causes the disease, they can offer treatments to people with MSA.
There is no known genetic cause of MSA. At this time, MSA is not known to be linked to genes. There is no evidence that MSA is passed down within families. Research would need to be done to find out what role, if any, genes play in MSA.
The hot cross-bun sign on MRI. This finding is typical in people with MSA.
Timothy Hains MD
How is MSA Treated?
Currently, there is no way to slow down or stop the disease. Over the course of years, the symptoms become more severe, and the disease begins to affect more of the body. This limits a person’s ability to perform activities of daily living.There is no treatment for the ataxia subtype of MSA. Because some people with MSA-C have problems with balance, using a cane, walker, or wheelchair can help them move around more easily. Treatments are available for the symptoms of parkinsonism and autonomic dysfunction, but, as the disease gets worse, these treatments don’t work as well as they may have earlier in the disease.
A drug called levodopa, which is commonly used to treat Parkinson disease, may also be used to treat MSA-P. In some people, levodopa might not work or, over time, may quit working. If this happens, dopamine agonists may be used, but they may also not be effective.
The symptoms of autonomic dysfunction can be treated in a number of different ways. Medication can be used to treat orthostatic hypotension, and people can do things in their everyday lives to help to lessen the effects of the orthostatic hypotension.
Things to avoid if you have orthostatic hypotension
Eating a big meal
Drinking alcohol
Straining when having a bowel movement.
Things that help if you have orthostatic hypotension
Increasing your salt intake
Wearing stockings that compress the blood vessels in your legs
Sleeping with the head of your bed tilted up
Taking extra care when changing your position, especially when going from lying down to sitting up or standing For men who have difficulty obtaining an erection, both drugs and penile implants can be helpful; however, drugs should be used with caution because one class of drugs commonly used to treat erectile dysfunction (phosphodiesterase inhibitors, including sildenafil, vardenafil, and tadalafil) can make hypotension worse. Other drugs can be used to treat people who have lost control of their bladder function.
MSA is a disease that gets worse over time, and there is currently no cure. The symptoms of MSA can cause a significant strain on the people with the disease as well as those around them–especially the caregiver. In addition to working closely with your neurologist, seeking psychological help can be extremely valuable for both the individual and the family. If you have any questions, do not hesitate to talk with your doctor.
The WE MOVE web site has two additional sources of information: www.wemove.org/msa contains an overview of the symptoms, diagnosis, and treatment of MSA and the MSA Discussion group, reached by clicking on the Discussion tab at the top of any page, is a resource for you to share your knowledge and ask questions about living with MSA. The Shy-Drager Syndrome/Multiple System Atrophy Support Group at www.shy-drager.org/ is also a valuable source of support for people with MSA and for their caregivers.
Published by WE MOVE
Judith Blazer, Executive Director
Joy B. Leffler, Director of Education
Cate Murray and Richard Robinson, Medical Editors
Lori Neste, Administrative Coordinator
Copyright © 2008 WE MOVE. All rights reserved.
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