Amyotrophic Lateral Sclerosis


Discovery:




Amyotrophic Lateral Sclerosis, ALS, was originally discovered by french neurologist Jean-Martin Charcot in 1869. However, widespread attention was only given to the disease following the diagnosis of beloved professional baseball player Lou Gehrig in 1939. The name Lou Gehrig's Disease is still commonly used in reference to the disease.


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Symptoms:



The primary symptoms that are often precursors to ALS often vary from person to person. Because it is an onset disease, these symptoms gradually worsen over time. The rate at which ALS progresses is also an individualized pattern; however, there are multiple "types" of ALS patterns that the majority of people follow.


Initial symptoms generally include gradually onset, progressively worsening, painless muscle weakness. ALS is a disease that impacts the function of motor neurons in the brain and spinal cord, it is a disorder that leads to the deterioration of nervous cells (weakens muscles and impacts physical function). Unfortunately, ALS is always fatal, because of the nature of the weakening and eventual paralysis of all muscles, the body eventually fails due to respiratory problems.



Other common symptoms include:
Ages affected:
  • Tripping
  • Dropping things
  • Abnormal fatigue (of the arms or legs)
  • Slurred speech
  • Muscle cramps
  • Muscle Twitching
  • Uncontrollable periods of laughing and or crying
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Inheritance Pattern:



There are a variety of specific types of ALS that are commonly distinguished by the symptoms of the case, as well as the genetic cause or lack of association. The majority of people in the world with ALS have a form of the disease that is referred to as sporadic, or having to do with people who have no evident history of the disorder within their close family. These people usually develop symptoms in their late fifties. However, less than 10% of people who have ALS have a type that is associated with a family history. The symptoms of familial ALS typically first appear in the late forties or early fifties of one’s life. On rare occasion, people who suffer from familial ALS develop symptoms in their teenage years; this type of ALS is known as juvenile ALS.

“Mutations in several genes can cause familial ALS and contribute to the development of sporadic ALS. Mutations in the C9orf72 gene account for 30 to 40 percent of familial ALS in the United States and Europe. Worldwide, SOD1 gene mutations cause 15 to 20 percent of familial ALS, and TARDBP and FUS gene mutations each account for about 5 percent of cases.”

Environmental Factors:



  1. The only environmental factor that is universally accepted as being directly related to ALS is smoking; however, there are theories that other environmental factors are linked to ALS. For example, it is believed that lead exposure, head trauma, electromagnetic fields, agricultural chemicals, and heavy metals could all be relating factors to ALS.


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Diagnosis:



Because ALS only attacks motor neurons, the sense of hearing, touch, taste, sight, and smell are not affected. Which is common with diseases that are similar to ALS, this is one technique that is referenced when making a diagnosis.

There are currently no definitive ways of diagnosing ALS from an early stage. It is often through a series of diagnostic tests that rule out diseases that mimic the symptoms of ALS that a diagnosis is established.





The majority of people who suffer from ALS are examined by the following tests:
  • Electrodiagnostic tests including electromyography (EMG) and nerve conduction velocity (NCV)
  • Blood and urine studies including high resolution serum protein electrophoresis, thyroid and parathyroid hormone levels and 24-hour urine collection for heavy metals
  • Spinal tap
  • X-rays, including magnetic resonance imaging (MRI)
  • Myelogram of cervical spine
  • Muscle and/or nerve biopsy
  • A thorough neurological examination

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Works Cited:


“Amyotrophic Lateral Sclerosis - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/amyotrophic-lateral-sclerosis#genes.


“What Is ALS? What Are the Types and Causes?” WebMD, WebMD, www.webmd.com/brain/understanding-als-basics#1.
Rothstein, Jeffrey D. “Five Myths about ALS.” The Washington Post, WP Company, 22 Aug. 2014, www.washingtonpost.com/opinions/five-myths-about-als/2014/08/22/70007ef2-2842-11e4-86ca-6f03cbd15c1a_story.html?noredirect=on&utm_term=.1aaf606409b2.
“Amyotrophic Lateral Sclerosis - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/amyotrophic-lateral-sclerosis.