Saturday, January 24, 2015

Etiology of ALS, and putting another face to the name.

In nine out of ten diagnoses of ALS, no clear identifying cause is apparent. Diagnosed patients lack an obvious genetic history, complete with affected family members. Nothing about the way patients live their lives have given scientists and clinicians clues as to what causes ALS. There is only a small, 5-10% of cases of ALS is familial. The term "familial ALS" means that there is more than one occurrence of the disease in the family. 

ALS occurs rarely and spontaneously, and has a median survival of 3 years after diagnosis. This motor neurodegenerative disease progresses in stages. It announces itself with persistent weakness or spasticity in one are or leg, causing difficulty using the affected limb. Some patients' first incidences have occurred with no warning, falling fast face first while walking during the day. Sometimes the motor problems originate in the muscles that control speech and swallowing. Hearing, vision, and touch generally remain normal, but voluntary movements of skeletal muscles can rapidly decline. 


In middle stages of the disease, motor symptoms progress from their starting point to the rest of the body, until it demands to be attended to. Some muscles may become paralyzed, while others are weakened or unaffected. Weakness in swallowing muscles may cause choking or difficulty eating and managing saliva. Weakness in breathing muscles can cause respiratory insufficiency, especially when lying down. Treatment can extend the length and meaningful quality of life for patients.


In the late stages of ALS, the symptoms have progressed immensely, and eventually lead to death. Most voluntary muscles are completely paralyzed. Muscles that help move air in and out of the lungs become diminished, and patients can need ventilatory support. Speech, eating or drinking may become impossible. New technology, like the computer that was talked about in the first post, may be used to help patients communicate through a speaking computer program. 


The end of this post will leave another face to the name of ALS, showing the true progression of this rapid  terminal disease. Steve Gleason, a former NFL football player, has been interviewed about his new journey in living. When Gleason was originally diagnosed, his providers truthfully told him to prepare to die, as this terminal illness has no medical cure. In response, Gleason said that he would instead "prepare to live." 




Stages of ALS. (n.d.). Retrieved January 23, 2015, from http://mda.org/disease/amyotrophic-lateral-sclerosis/signs-and-symptoms/stages-of-als


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