ALS case study
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Transcript of ALS case study
Case Study: ALSBiochemistry 460
Kari Claussen
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.
What are some tests to do that would help narrow down the possible cause?
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
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
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
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
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
What are some medications that could help her with this disease?
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
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
References
• http://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/home/ovc-20247208
• http://www.reciprocalnet.org/recipnet/showsamplebasic.jsp?sampleId=27344503