The patient is a 79-year-old woman who was experiencing motor skill difficulties like trouble walking. Tests were needed to diagnose the cause, which included an EMG, MRI, blood and urine tests, and spinal tap to rule out other conditions. The diagnosis was amyotrophic lateral sclerosis (ALS), a disease that breaks down nerve cells and causes muscle disability. The only FDA-approved medication for ALS is riluzole, which may help slow progression by reducing glutamate levels in the brain that are often higher with ALS. The ice bucket challenge raised awareness for ALS by simulating symptoms of impaired speech and breathing.

1. Case Study: ALS
Biochemistry 460
Kari Claussen

2. The Patient
• My Great Aunt who is 79 was having trouble with her day
to day motor skills like walking. She has lived a healthy
and active lifestyle and has never had issues like this
before so she went to see the doctor with her husband to
try to find out what was going on.

3. What are some tests to do that would help
narrow down the possible cause?

4. Things to Look At
• Medical history of the patient and her family along with
environmental factors such as smoking
• Get a complete list of all symptoms and how long they
have been occurring
• Blood Test
• Urine Test

5. Diagnosis of ALS
• Electromyogram (EMG)
• Nerve conduction study
• MRI
• Blood and urine tests
• Spinal tap
• Muscle biopsy
• All of these tests can rule out other possible conditions that relate in similar
symptoms since ALS is hard to diagnose in the earlier stages

6. Facts about ALS
• Disease breaks down nerve cells and causes muscle disability
• Cause is unknown and considered rare
• People with ALS tend to have higher levels of glutamate
• Starts in the hands, feet or limbs, and then spreads to other parts of your body
• A few of the early symptoms
• Difficulty walking or doing your normal daily activities
• Slurred speech or trouble swallowing
• Muscle cramps and twitching in your arms, shoulders and tongue

7. Glutamate
• A most abundant neurotransmitter
accounting for over 90% of
synaptic connections in the brain
• Amino Acid
• Synthesized in the central nervous
system from glutamine

8. Ice Bucket Challenge
• A trend that was shared on Facebook thousands of times and
kept going as the participants challenged others to help raise
awareness for ALS
• The whole point of this was to give the participants a second of
being in the shoes of a person with ALS because you can’t feel
your body for a moment and have a hard time speaking and the
cold water takes away your breath

10. What are some medications that could help her
with this disease?

11. ALS Medications
• Riluzole is the only proven drug to help slow the progression of ALS in
some people
• They think that it might reduce levels of a chemical messenger in the brain (glutamate)
that's often present in higher levels in people with ALS
• Other medications can also be prescribed to help with other symptoms that
come with ALS

12. Biochemistry of Riluzole
• Not a complete understanding of
how Riluzole works
• They think that is blocks TTX -
sensitive sodium channels, which
are associated with damaged
neurons

13. References
• http://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-
sclerosis/home/ovc-20247208
• http://www.reciprocalnet.org/recipnet/showsamplebasic.jsp?sampleId=273
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