Case: Multiple Sclerosis
DEFINITION OF TERMS
Myelin sheath- Myelin
Myelin is an insulating layer, or
sheath, that forms around nerves,
including those in the brain and spinal
cord. It is made up of protein and fatty
substances.
The purpose of the myelin sheath is to
allow electrical impulses to transmit
quickly and efficiently along the nerve
cells. If myelin is damaged, the impulses
slow down
Definition of the disease:
Multiple sclerosis (MS) is a disease in
which your immune system attacks the
protective sheath (myelin) that covers
your nerves. Myelin damage disrupts
communication between your brain and
the rest of your body. Ultimately, the
nerves themselves may deteriorate, a
process that's currently irreversible
Epidemiology
Risk Factors
These factors may increase your risk of
developing multiple sclerosis:
Age. MS can occur at any age, but
most commonly affects people
between the ages of 15 and 60.
Sex. Women are about twice as
likely as men are to develop MS.
Family history. If one of your
parents or siblings has had MS, you are
at higher risk of developing the
disease.
Certain infections. A variety of
viruses have been linked to MS,
including Epstein-Barr, the virus that
causes infectious mononucleosis.
Race. White people, particularly
those of Northern European descent,
are at highest risk of developing MS.
People of Asian, African or Native
American descent have the lowest risk.
Climate. MS is far more common
in countries with temperate climates,
including southern Canada, northern
United States, New Zealand,
southeastern Australia and Europe.
Certain autoimmune
diseases. You have a slightly higher
risk of developing MS if you have
thyroid disease, type 1 diabetes or
inflammatory bowel disease.
 Smoking. Smokers who
experience an initial event of
symptoms that may signal MS are
more likely than nonsmokers to
develop a second event that confirms
relapsing-remitting MS.
Causes
The cause of multiple sclerosis is
unknown. It's believed to be an
autoimmune disease, in which the body's
immune system attacks its own tissues. In
MS, this process destroys myelin the
fatty substance that coats and protects
nerve fibers in the brain and spinal cord.
Myelin can be compared to the insulation
on electrical wires. When myelin is
damaged, the messages that travel along
that nerve may be slowed or blocked.
It isn't clear why MS develops in some
people and not others. A combination of
factors, ranging from genetics to
childhood infections, may play a role.
Treatment and diagnosis
There are no specific tests for MS. The
diagnosis relies on ruling out other
conditions that might produce similar
signs and symptoms.
Your doctor is likely to start with a
thorough medical history and
examination. Your doctor may then
recommend:
Blood tests, to help rule out
infectious or inflammatory diseases
with symptoms similar to MS.
Spinal tap (lumbar
puncture), in which a small sample of
fluid is removed from your spinal canal
for laboratory analysis. This sample
can show abnormalities in white blood
cells or antibodies that are associated
with MS. Spinal tap can also help rule
out viral infections and other
conditions with symptoms similar to
MS.
MRI, which can reveal areas of MS
(lesions) on your brain and spinal cord.
You may receive an intravenous dye to
highlight lesions that indicate your
disease is in an active phase.
Evoked potential tests
These tests record the electrical signals
produced by your nervous system in
response to stimuli. An evoked potential
test may use visual stimuli or electrical
stimuli, in which you watch a moving
visual pattern or short electrical impulses
are applied to nerves in your legs or arms.
Electrodes measure how quickly the
information travels down your nerve
pathways.
Treatment and drugs:
Treatments for attacks
Corticosteroids, such as oral
prednisone and intravenous
methylprednisolone, are prescribed to
reduce nerve inflammation. Side
effects may include insomnia,
increased blood pressure, mood swings
and fluid retention.
Plasma exchange
(plasmapheresis). The liquid portion
of part of your blood (plasma) is
removed and separated from your
blood cells. The blood cells are then
mixed with a protein solution (albumin)
and put back into your body. Plasma
exchange may be used if your
symptoms are severe and haven't
responded to steroids.
Treatments to modify progression
No therapies have shown benefit for
slowing the progression of primary-
progressive MS. For relapsing-remitting
MS, certain medications can lower the
relapse rate and reduce the rate of
formation of new lesions, particularly early
in the disease course.
The options include:
Beta interferons. These
medications, which are injected under
the skin or into muscle, can reduce the
frequency and severity of relapses.
Beta interferons can cause side effects
such as flu-like symptoms and
injection-site reactions. You'll need
blood tests to monitor your liver
enzymes.
Glatiramer acetate
(Copaxone). This medication may
help block your immune system's
attack on myelin. The medication must
be injected beneath the skin. Side
effects may include skin irritation at
the injection site.
Dimethyl fumarate
(Tecfidera). This twice-daily oral
medication can reduce relapses. Side
effects may include flushing, diarrhea,
nausea and lowered white blood cell
count.
Fingolimod (Gilenya). This once-
daily oral medication reduces relapse
rate. You'll need to have your heart
rate monitored for six hours after the
first dose because your heartbeat may
be slowed. Other side effects include
high blood pressure and blurred vision.
Teriflunomide (Aubagio). This
once-daily medication can reduce
relapse rate. Teriflunomide can cause
liver damage, hair loss and other side
effects. It is also known to be harmful
to a developing fetus.
Natalizumab (Tysabri). This
medication is designed to block the
movement of potentially damaging
immune cells from your bloodstream to
your brain and spinal cord. The
medication increases the risk of a viral
infection of the brain called
 progressive multifocal
leukoencephalopathy. It is generally
given to people who have more severe
or active MS, or who do not respond to
or can't tolerate other treatments.
Mitoxantrone
(Novantrone). This
immunosuppressant drug can be
harmful to the heart and is associated
with development of blood cancers.
Mitoxantrone is usually used only to
treat severe, advanced MS.
Treatments for signs and symptoms
Physical therapy. A physical or
occupational therapist can teach you
stretching and strengthening
exercises, and show you how to use
devices that can make it easier to
perform daily tasks.
Muscle relaxants. You may
experience painful or uncontrollable
muscle stiffness or spasms,
particularly in your legs. Muscle
relaxants such as baclofen (Lioresal,
Gablofen) and tizanidine (Zanaflex)
may help.
Medications to reduce fatigue.
Other medications. Medications
may also be prescribed for depression,
pain, and bladder or bowel control
problems that are associated with MS.
Symptoms:
Early Symptoms of MS
Blurred or double vision
Thinking problems
Clumsiness or a lack of
coordination
Loss of balance
Numbness
Tingling
Weakness in an arm or leg
No two people have exactly the same
symptoms of MS.
You may have a single symptom, and then
go months or years without any others. A
problem can also happen just one time, go
away, and never return. For some people,
the symptoms become worse within
weeks or months.
Common Symptoms of MS
These are the most common changes to
the mind and body in someone with MS:
Unusual sensations: People with MS
often say they feel a "pins and needles"
sensation. They may also have numbness,
itching, burning, stabbing, or tearing
pains. About half of people with MS have
these uncomfortable symptoms.
Fortunately, they can be managed or
treated.
Bladder problems: About 8 in 10 people
have bladder problems, which can be
treated. You may need to pee often,
urgently, need to go at night, or have
 trouble emptying your bladder fully. Bowel
problems, especially constipation, are also
common.
Trouble walking: MS can cause muscle
weakness or spasms, which make it harder
to walk. Balance problems, numb feet, and
fatigue can also make walking hard.
Dizziness: It's common to feel dizzy or
lightheaded. You usually won't have
vertigo, or the feeling that the room is
spinning.
Fatigue: About 8 in 10 people feel very
tired. It often comes on in the afternoon
and causes weak muscles, slowed
thinking, or sleepiness. It's usually not
related to the amount of work you do.
Some people with MS say they can feel
tired even after a good night's sleep.
Types:
Primary Progressive Multiple Sclerosis
In primary progressive multiple sclerosis,
symptoms continually worsen from the
time of diagnosis. There are no well-
defined attacks, and there is little or no
recovery. Between 10% and 15% of people
with MS have primary progressive MS.
Several aspects of primary progressive MS
distinguish it from other types of MS:
People with primary progressive MS
are usually older at the time of diagnosis --
an average age of 40.
Roughly equal numbers of men and
women develop primary progressive MS.
In other types of MS, women outnumber
men three to one.
Primary progressive MS usually
leads to disability earlier than relapsing-
remitting MS (see below).
Perhaps the most upsetting
difference in primary progressive MS is its
poor response to treatment. So far, no
treatments have been shown to help,
although studies are ongoing.
Relapsing-Remitting Multiple Sclerosis
Most people with multiple sclerosis --
around 90% -- have the relapsing-
remitting type. Most people with this type
of MS first experience symptoms in their
early 20s. After that, there are periodic
attacks (relapses), followed by partial or
complete recovery (remissions).
The pattern of nerves affected, severity of
attacks, degree of recovery, and time
between relapses all vary widely from
person to person.
Eventually, most people with relapsing-
remitting MS will enter a secondary
progressive phase of MS.
Secondary Progressive Multiple Sclerosis
After living with relapsing-remitting MS for
many years, most people will develop
secondary progressive MS. In this type of
MS, symptoms begin a steady march,
 without relapses or remissions. (In this
way, secondary progressive MS is like
primary progressive MS.) The transition
typically occurs between 10 and 20 years
after the diagnosis of relapsing-remitting
MS.
It's unclear why the disease makes the
transformation from relapsing-remitting to
secondary progressive MS. A few things
are known about the process:
The older a person is at original
diagnosis, the shorter the time for the
disease to become secondary
progressive.
People with incomplete recovery
from initial relapses generally convert to
secondary progressive MS sooner than
those who recover completely.
The process of ongoing nerve
damage changes. After the
transformation, there's less inflammation,
and more slow degeneration of nerves.
Secondary progressive MS is challenging
to treat -- and to live with. Treatments are
moderately effective at best. Progression
occurs at a different rate in each person
and generally leads to some disability.
Progressive Relapsing Multiple Sclerosis
Progressive relapsing multiple sclerosis is
the least common form of the disease.
Relapses or attacks occur periodically.
However, symptoms continue and are
progressive between relapses.
Progressive relapsing MS is rare enough
that little is known about it. Probably
around 5% of people with multiple
sclerosis have this form. Progressive
relapsing MS seems similar to primary
progressive MS in many ways.
What Causes Multiple Sclerosis?
No one knows what causes multiple
sclerosis. Tantalizing clues have sparked
research in many areas but no definite
answers. Some theories have included:
Geography. People in the northern
U.S. develop MS more often than those in
the warmer south. Research into vitamin D
and sunlight as protective factors is
ongoing.
Smoking. Tobacco may increase
the risk slightly. But it's not the whole
story.
Genetics. Genes do play a role. If
an identical twin has MS, the other twin
has a 20% to 40% chance of developing it
as well. Siblings have a 3% to 5% chance
if a brother or sister is affected.
Vaccines. Extensive research has
essentially ruled out vaccines as a cause
of MS.
Multiple sclerosis is probably an
autoimmune disease. Like lupus or
rheumatoid arthritis, the body creates
antibodies against itself, causing damage.
In MS, the damage occurs in the lining, or
myelin, of nerves.
How Is Multiple Sclerosis Diagnosed?
Multiple sclerosis is generally diagnosed
after a person has experienced
troublesome symptoms related to nerve
damage. Vision loss, weakness, and loss of
sensation are common complaints.
The most common tests used to diagnose
MS are scans of the brain and spinal cord
with magnetic resonance imaging (MRI)
and lumbar puncture or a spinal tap.
Unfortunately, the time between the first
appearance of symptoms and diagnosis of
MS can be prolonged. Studies show that
because symptoms are often low-grade or
vague, doctors may miss the diagnosis.
Even when symptoms are definitely
consistent with MS, the diagnosis still can't
be made right away. This is because, by
definition, multiple sclerosis is a long-term
illness. After the first symptoms, there's an
often frightening and frustrating period of
waiting until more symptoms occur and
the diagnosis becomes clear.