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Amyotrophic Lateral Sclerosis

(ALS)

Lou Gehrigs Story

Gehrig played the first eight games of the 1939 season, but
he managed only four hits. On a ball hit back to pitcher
Johnny Murphy, Gehrig had trouble getting to first in time for
the throw. When he returned to the dugout, his teammates
complimented him on the "good play." Gehrig knew when
his fellow Yankees had to congratulate him for stumbling
into an average catch it was time to leave. He took himself
out of the game. On May 2, 1939, as Yankee captain, he took
the lineup card to the umpires, as usual. But his name was
not on the roster. Babe Dahlgren was stationed at first. The
game announcer intoned, "Ladies and gentlemen, Lou
Gehrig's consecutive streak of 2,130 games played has
ended.
Doctors at the Mayo Clinic diagnosed Gehrig with a very rare
form of degenerative disease: amyotrophic lateral sclerosis
(ALS), which is now called Lou Gehrig's disease. There was
no chance he would ever play baseball again.

At a Glance

Is a progressive, fatal, neurodegenerative disease caused by


the degeneration of motor neurons

In the United States, the condition is often referred to as Lou


Gehrig's Disease,

Causes muscle weakness and atrophy throughout the body

At a Glance Cont

"a" for without


"myo" for muscle
"trophic" for
nourishment
"lateral" for side (of
the spinal cord)
"sclerosis" for
hardening or scarring

Motor Neurons
Lou Gehrig

Nerve cells that control


muscle movement
Upper motor neurons
send messages from
the brain to the spinal
cord
Lower motor neurons
send messages from
the spinal cord to the
muscles

Other Names

ALS
Charcot disease
Lou Gehrig Disease
Motor Neuron
Disease,
Amyotrophic Lateral
Sclerosis

Incidence

Up to seven out of every


100,000 people get ALS.
It's more common in men
than women, with
symptoms usually
appearing between the
ages of 50 and 75. About
10% of people with ALS
have a family history of
the disease. Life
expectancy averages two
to five years after
diagnosis

Prognosis

There is progressive
loss of ability to
function or care for
oneself.
Death often occurs
within 3 to 5 years of
diagnosis, about 20%
of patients survive
more than 5 years
after diagnosis

Causes of The Disorder

Mutations in the ALS2, SETX,


SOD1, and VAPB genes cause
amyotrophic lateral sclerosis.
Variations of the ANG, DCTN1,
NEFH, PRPH, SMN1, and SMN2
genes increase the risk of
developing amyotrophic
lateral sclerosis.
Each type of familial
amyotrophic lateral sclerosis
is caused by mutations in a
specific gene. Type 1 is
caused by mutations in the
SOD1 gene, type 2 by ALS2
mutations, type 4 by
mutations in the SETX gene,
and type 8 by VAPB mutations

It is unclear how mutations


in these genes contribute
to the death of motor
neurons, which leads to
muscle weakness and
atrophy.

Research findings suggest


that these mutations lead
to the production of toxic
substances or clumps
(aggregates) of misshapen
proteins that accumulate
and damage motor neurons

Causes Cont.

About 90 percent of
amyotrophic lateral sclerosis
cases are sporadic and are
not inherited.
Among the estimated 10
percent of familial cases of
this disorder, the pattern of
inheritance varies with the
type of amyotrophic lateral
sclerosis.
Type 2 amyotrophic lateral
sclerosis is inherited in an
autosomal recessive pattern,
which means both copies of
the gene in each cell have
mutations.

Most often, the parents of an


individual with an autosomal
recessive condition each carry
one copy of the mutated
gene, but do not show signs
and symptoms of the
condition.

Symptoms

Symptoms usually do not develop


until after age 50. Persons with
ALS have a loss of muscle
strength and coordination that
eventually gets worse. This
eventually makes one unable to
do routine tasks such as going up
steps, getting out of a chair, or
swallowing.
Breathing or swallowing muscles
may be the first muscles affected.
As the disease gets worse, more
muscle groups develop problems.
ALS does not affect the senses
(sight, smell, taste, hearing,
touch), bladder or bowel function,
or a person's ability to think or
reason.

Difficulty breathing
Difficulty swallowing

Gagging
Chokes easily

Head drop due to weak


spinal and neck muscles
Muscle cramps
Muscle weakness that slowly
gets worse

Commonly involves one part


of the body first, such as the
arm or hand
Eventually leads to difficulty
lifting, climbing stairs, and
walking

Treatment

There is no known cure for


ALS. The first drug
treatment for the disease is
a medicine called riluzole.
Riluzole may prolong life,
but does not reverse or
stop the disease from
getting worse.
Physical therapy,
rehabilitation, use of
braces or a wheelchair, or
other orthopedic measures
may be needed to
maximize muscle function
and general health.

Diagnosis

An exam of the nerves and


muscles shows weakness,
often beginning in one area.
There may be muscle tremors,
spasms, twitching, or loss of
muscle tissue (atrophy).
Atrophy and twitching of the
tongue are common.
The person's walk may be stiff
or clumsy. Reflexes may be
abnormal and may include
loss of the gag reflex. Some
patients have trouble
controlling crying or laughing.
This is sometimes called
"emotional incontinence."

Tests that may be done


include:
Blood tests to rule out other
conditions
Breathing test to see if lung
muscles are affected
EMG to see which nerves do
not work properly
Genetic testing, if there is a
family history of ALS
Head CT or MRI of head to
rule out other conditions
Swallowing studies
Spinal tap (lumbar puncture)

Quality of Life

Although a person's
physical state worsens,
his or her mental
capacity does not.
To cope with the
progression of the
disease, good emotional
support from family and
friends is important.
Support groups can also
be helpful

Support Groups

ALS Society of Canada can


be contacted by phone (1800-267-4257), by e-mail (
alscanada@als.ca), or
accessed online at
www.als.ca.

ALS Association
http://www.alsa.org/

Bibliography

"Amyotrophic lateral sclerosis." Genetics


home reference. august 07. 18 May 2009
<http://ghr.nlm.nih.gov/condition=amyotrophi
clateralsclerosis#treatment>.