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Amyotrophic Lateral Sclerosis: Causes, Symptoms, Diagnosis And Treatment

Pete Frates, the man who inspired the ice bucket challenge campaign that raised more than $200 million worldwide, died at the age of 34 after a long battle with amyotrophic lateral sclerosis. He was diagnosed with this disease in 2012 at the age of 27 after noticing that a sustained wrist injury wasn't healing properly.

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a motor neuron disease that affects nerve cells in the brain and spinal cord. In the United States, about 5,000 people are diagnosed with ALS every year. This disease affects 2 to 5 people in every 100,000 individuals.

Causes Of Amyotrophic Lateral Sclerosis [1]

Amyotrophic lateral sclerosis is a type of motor neuron disease that affects the nerve cells that control the voluntary muscle movements like talking and walking. As the disease progresses, the nerve cells degenerate and die and stop sending messages to the muscles. This makes it difficult for the brain to control voluntary movement and the muscles start weakening and stop functioning. As a result you can't move your arms, legs and face.

Types Of Amyotrophic Lateral Sclerosis

  • Sporadic ALS - According to the ALS Association, almost 90% cases of ALS are called sporadic, which means the exact cause of the disease is unknown [2] .
  • Familial ALS - It accounts for 5-10% of cases that occur due to genetic mutations and it is inherited.[3] .

Symptoms Of Amyotrophic Lateral Sclerosis

People with this disease live for 3 to 5 years after first experiencing the symptoms. The symptoms are as follows:

  • Difficulty in walking
  • Falling
  • Weakness in the arms, leg, feet or ankles
  • Cognitive and behavioural changes
  • Slurred speech
  • Muscle cramps and twitching in your arms, tongue and shoulders
  • Inappropriate crying or laughing
  • Fatigue
  • Difficulty on breathing and swallowing

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Risk Factors Of Amyotrophic Lateral Sclerosis

Heredity - If a parent carries one copy of the mutation gene, there is a 50-50 chance of the child developing the disease [3] .

  • Sex - Men above the age of 65 are more likely to get ALS than women [4] .
  • Age - People aged between 40 and 60 are at an increased risk of ALS [5] .
  • Smoking - Smoking excessively can increase the risk of ALS [6] .

Complications Of Amyotrophic Lateral Sclerosis

  • Dementia
  • Breathing problems [7]
  • Speaking problems
  • Eating problems

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Diagnosis Of Amyotrophic Lateral Sclerosis [8]

Electromyogram (EMG) - A needle is inserted into the skin and it evaluates the electrical activity of your muscles. Any kind of abnormality in the muscles is caught in the EMG that helps diagnose ALS.

  • MRI - This diagnostic test shows detailed images of the brain and spinal cord that will help determine ALS.
  • Spinal tap - A sample of your spinal fluid is collected using a small needle, which is inserted between two vertebrae in your lower back.
  • Nerve conduction study - The test measures how well the nerves send signals to different areas of the body.

Treatment Of Amyotrophic Lateral Sclerosis

The treatment for amyotrophic lateral sclerosis helps lower the symptoms and prevent complications, but it can't reverse the damage caused by the disease. The treatment options include the following:

1. Medications

According to the Food and Drug Administration, two drugs like rilutek and edaravone can help in the treatment of ALS.

  • Rilutek - This drug is taken orally, which is shown to increase life expectancy by three to six months. It causes side effects like change in liver function, dizziness and gastrointestinal conditions [9] .
  • Edaravone - This drug is given by intravenous infusion to reduce the symptoms and its side effects include headache, shortness of breath, and bruising [10] .

2. Therapies

  • Physical therapy - It will help people with ALS manage pain and address mobility. The physical therapist will teach you low-impact exercises that will help maintain your heart healthand muscle strength and strengthen your mobility [11] .
  • Breathing therapy - Devices are given to help patients breathe better at night.
  • Speech therapy - Speech therapists teach patients how to talk and help them explore other methods of communication, such as pen and paper or alphabet board [12] .
  • Occupational therapy - An occupational therapist will train patients with ALS to remain independent despite hand and arm weakness [11] .
  • Nutritional support - Nutritionists recommend foods that are easier to follow and the foods that meet your nutritional requirements [13] .
View Article References
  1. [1] Rowland, L. P., & Shneider, N. A. (2001). Amyotrophic lateral sclerosis.New England Journal of Medicine,344(22), 1688-1700.
  2. [2] Greenway, M. J., Andersen, P. M., Russ, C., Ennis, S., Cashman, S., Donaghy, C., ... & Morrison, K. E. (2006). ANG mutations segregate with familial and'sporadic'amyotrophic lateral sclerosis.Nature genetics,38(4), 411.
  3. [3] Kwiatkowski, T. J., Bosco, D. A., Leclerc, A. L., Tamrazian, E., Vanderburg, C. R., Russ, C., ... & Valdmanis, P. (2009). Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.Science,323(5918), 1205-1208.
  4. [4] Chio, A., Logroscino, G., Hardiman, O., Swingler, R., Mitchell, D., Beghi, E., ... & Eurals Consortium. (2009). Prognostic factors in ALS: a critical review.Amyotrophic lateral sclerosis,10(5-6), 310-323.
  5. [5] Mandrioli, J., Faglioni, P., Nichelli, P., & Sola, P. (2006). Amyotrophic lateral sclerosis: prognostic indicators of survival.Amyotrophic lateral sclerosis,7(4), 217-226.
  6. [6] Sutedja, N. A., Veldink, J. H., Fischer, K., Kromhout, H., Wokke, J. H. J., Huisman, M. H. B., ... & Van den Berg, L. H. (2007). Lifetime occupation, education, smoking, and risk of ALS.Neurology,69(15), 1508-1514.
  7. [7] Benditt, J. O. (2002). Respiratory complications of amyotrophic lateral sclerosis. InSeminars in respiratory and critical care medicine(Vol. 23, No. 03, pp. 239-247). Copyright© 2002 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.:+ 1 (212) 584-4662.
  8. [8] Brooks, B. R., Miller, R. G., Swash, M., & Munsat, T. L. (2000). El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis.Amyotrophic lateral sclerosis and other motor neuron disorders,1(5), 293-299.
  9. [9] Lacomblez, L., Bensimon, G., Leigh, P. N., Debove, C., Bejuit, R., Truffinet, P., & Meininger, V. (2002). Long-term safety of riluzole in amyotrophic lateral sclerosis.Amyotrophic Lateral Sclerosis and other Motor Neuron Disorders,3(1), 23-29.
  10. [10] Ito, H., Wate, R., Zhang, J., Ohnishi, S., Kaneko, S., Ito, H., ... & Kusaka, H. (2008). Treatment with edaravone, initiated at symptom onset, slows motor decline and decreases SOD1 deposition in ALS mice.Experimental neurology,213(2), 448-455.
  11. [11] Lewis, M., & Rushanan, S. (2007). The role of physical therapy and occupational therapy in the treatment of amyotrophic lateral sclerosis.NeuroRehabilitation,22(6), 451-461.
  12. [12] Körner, S., Siniawski, M., Kollewe, K., Rath, K. J., Krampfl, K., Zapf, A., ... & Petri, S. (2013). Speech therapy and communication device: impact on quality of life and mood in patients with amyotrophic lateral sclerosis.Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration,14(1), 20-25.
  13. [13] Slowie, L. A., Paige, M. S., & Antel, J. P. (1983). Nutritional considerations in the management of patients with amyotrophic lateral sclerosis (ALS).Journal of the American Dietetic Association,83(1), 44-47.
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