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By Camille Renee
Dr. JD
Saint James School of Medicine
Signs and Symptoms
 Muscle spasticity
 Hypereflexia
 Muscular weakness
 Muscle wasting
 Limb weakness
 Dysarthria
 Respiratory weakness
Mutation
 Superoxide dismutase (SOD1:21q22.1) is the most
common mutation
 SOD1 mutation is only seen in 20% of familial ALS
 Juvenile onset - may be autosomal dominant
(SETX:9q34.13) or autosomal recessive (ALS2:2q33
or ALS5:15q15.1−21.1)
 Adult onset – autosomal dominant (SOD1:21q22.1 or
ALS3:18q21)
ALS Onset
 Living with ALS
References
1. Amyotrophic lateral sclerosis. Retrieved October 2, 2014 from Wikipedia:
http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
2. Rohkamm, R. (2004). Color atlas of neurology. Germany: Georg Thieme Verlag
3. Solar Radiation and Climate Experiment. (2007). [Graph illustration the SORCE
Spectral Plot May 8, 2008]. Solar Spectral Data Access from the SIM, SOLSTICE, and
XPS Instruments. Retrieved from http://lasp.colorado.edu/cgi-bin/ion-
p?page=input_data_for_ spectra.ion
4. Solar Radiation and Climate Experiment. (2007). [Graph illustration the SORCE
Spectral Plot May 8, 2008]. Solar Spectral Data Access from the SIM, SOLSTICE, and
XPS Instruments. Retrieved from http://lasp.colorado.edu/cgi-bin/ion-
p?page=input_data_for_ spectra.ion
5. Images:
http://webuny.alsa.org/images/content/pagebuilder/2013_walk_to_defeat_als319528.jp
g; http://www.firstcovers.com/index.php/als+awareness.html?site=image&id=3779;
http://www.alsrg.org/National%20Red%20logo%20w%20BK%20tag.jpg;
http://www.alstshirts.com/images/z_als_butterfly_3_w3pr.jpg;
http://www.kickals.org/sitebuildercontent/sitebuilderpictures/webassets/KickALS.jpg;
https://www.als.ca/splash/logo.png?x=bust; http://www.wallpaperlo.com/wp-
content/uploads/2014/08/IceBucketChallenge.jpg;
http://www.discoversmithsfalls.ca/wp-content/uploads/2014/09/als-walk-for-life.png

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Familial Amyotrophic Lateral Sclerosis

  • 1. By Camille Renee Dr. JD Saint James School of Medicine
  • 2.
  • 3. Signs and Symptoms  Muscle spasticity  Hypereflexia  Muscular weakness  Muscle wasting  Limb weakness  Dysarthria  Respiratory weakness
  • 4. Mutation  Superoxide dismutase (SOD1:21q22.1) is the most common mutation  SOD1 mutation is only seen in 20% of familial ALS  Juvenile onset - may be autosomal dominant (SETX:9q34.13) or autosomal recessive (ALS2:2q33 or ALS5:15q15.1−21.1)  Adult onset – autosomal dominant (SOD1:21q22.1 or ALS3:18q21)
  • 6.
  • 7. References 1. Amyotrophic lateral sclerosis. Retrieved October 2, 2014 from Wikipedia: http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis 2. Rohkamm, R. (2004). Color atlas of neurology. Germany: Georg Thieme Verlag 3. Solar Radiation and Climate Experiment. (2007). [Graph illustration the SORCE Spectral Plot May 8, 2008]. Solar Spectral Data Access from the SIM, SOLSTICE, and XPS Instruments. Retrieved from http://lasp.colorado.edu/cgi-bin/ion- p?page=input_data_for_ spectra.ion 4. Solar Radiation and Climate Experiment. (2007). [Graph illustration the SORCE Spectral Plot May 8, 2008]. Solar Spectral Data Access from the SIM, SOLSTICE, and XPS Instruments. Retrieved from http://lasp.colorado.edu/cgi-bin/ion- p?page=input_data_for_ spectra.ion 5. Images: http://webuny.alsa.org/images/content/pagebuilder/2013_walk_to_defeat_als319528.jp g; http://www.firstcovers.com/index.php/als+awareness.html?site=image&id=3779; http://www.alsrg.org/National%20Red%20logo%20w%20BK%20tag.jpg; http://www.alstshirts.com/images/z_als_butterfly_3_w3pr.jpg; http://www.kickals.org/sitebuildercontent/sitebuilderpictures/webassets/KickALS.jpg; https://www.als.ca/splash/logo.png?x=bust; http://www.wallpaperlo.com/wp- content/uploads/2014/08/IceBucketChallenge.jpg; http://www.discoversmithsfalls.ca/wp-content/uploads/2014/09/als-walk-for-life.png

Editor's Notes

  1. AFFECTS LATERAL CORTICOSPINAL TRACT AND MOTOR NEURONS OF THE ANTEROR GREY COLUMN www.alsa.org/donate