Lou Gehrig's Disease (ALS)

This disease was made famous and named after Lou Gehrig, who was a famous baseball player for the New York Yankees, winning 6 World Series Championships with the team and playing in 2,130 consecutive games, a streak that remained intact until Cal Ripken, Jr. later broke it. During the later half of the 1938 season Lou Gehrig noticed his performance was beginning to slow down and his physical abilities were suddenly lessened, he was quoted as saying "I tired mid-season. I don't know why, but I just couldn't get going again." The following season on May 2, 1939 Lou Gehrig made the decision to not play the game anymore due to his decrease in performance and progressing physical debilitation. He began to trip over curbs, fumble baseballs, even stumbling while running the bases in practice. He then went to see Charles William Mayo of the famed Mayo Clinic in Rochester, Minnesota and after six days of testing, on June 19th, Gehrig's 36th birthday, he was confirmed to have Amyotrophic Lateral Sclerosis. On June 21st the Yankees announced his retirement and that Independence Day in front of 62,000 fans and reporters, Gehrig gave his famous "The Luckiest Man on the Face of the Earth" speech, which is remembered to this day. It is because of Lou Gehrig's notoriety and fateful end that the awareness of this disease is remotely as high as it is today.


Amyotrophic Lateral Sclerosis -
Amyotrophic lateral sclerosis (ALS) is commonly called Lou Gehrig's disease. In the Greek language "amyotrophic" means no muscle nourishment, "lateral" means the part of the spinal cord where the portions of the nerve cells that control the muscles are located, and "sclerosis" means the scarring and hardening of the nerve cell region. Lou Gehrig's disease is a progressive neuromuscular condition characterized by weakness, muscle wasting, fasciculations and increased reflexes. Approximately 5,000 Americans are diagnosed with the diease each year and about 20,000 Americans currently have the disease. The annual incidence rate is one to two cases per 100,000. The disease is most commonly diagnosed in middle age and affects more men than women. It usually presents with problems in dexterity or gait resulting from muscle weakness. Difficulty in speaking or swallowing is the initial symptom in the bulbar form of the disease. Over a period of months or years, patients with ALS develop severe, progressive muscular weakness and other symptoms caused by loss of function in both upper and lower motor neurons. This loss of function and degeneration leads to the death of the motor neurons. Once the neurons die, the brain looses the ability to control muscle movement. Individuals that are in the later stages of this disease may become completely paralyzed when these neurons die. Sphincter control, sensory function, intellectual abilities and skin integrity are preserved. Patients become completely disabled, often requiring ventilatory support and gastrostomy. Death usually occurs within five years of diagnosis and is attributed to respiratory failure or cachexia. The etiology of the disease is unknown. Current research is focused on abnormalities of neuronal cell metabolism involving glutamate and the role of potential neurotoxins and neurotrophic factors. New drugs are being developed based on these theories. Current management involves aggressive, individualized alleviation of symptoms and complications.

There are a variety of diagnostic tests that are performed to test for ALS. A blood test is used to check for the enzyme creatine kinase and also to detect familial ALS. The enzyme creatine kinase leaks out of damaged muscle in an individual. Familial ALS shows when ALS is present in two or or more of an individuals blood related family members. A cerebrospinal fluid examination is another test used by examining the cerebrospinal fluid surrounding an individual's brain and spinal cord. An electromyogram is a test that can indicate that motor nerves are not functioning but sensory nerves are normal; this is a sign of ALS. A magnetic resonance imaging exam is normally done on an individual's brain and spine so that doctors can rule out other conditions. A muscle biopsy is performed to determine whether the individual has a muscle disorder or whether or not they have ALS. The nerve conduction study measures the electrical nerve impulses and the functioning in an individual's muscles and nerves. The last test is a respiratory test that is used to determine if an individual's condition affects the muscles that controls their breathing.

Symptoms -
Initial Symptoms
  • Difficulty Breathing
  • Difficulty Swallowing
  • Weakness in the Neck Causing the Head to Drop
  • Muscle Deterioration, Leading to Paralysis
  • Speech Problems
  • Cramping
Secondary Symptoms
  • Inability to Retain Saliva
  • Muscles Spasms and Contractions
  • Swelling in the Extremities
  • Loss of Speech
  • Fatigue
  • Dramatic Weight Loss

Treatments
There are no known cures for ALS, but there are a few medications which hinder the progression of ALS. A FDA approved drug exists called Riluzole that slows the progression of Lou Gehrig's Disease. Riluzole does not stop the deterioration process but it has shown signs of prolonging life and slowing the fatal symptoms. Diazepam has been prescribed to keep the elasticity in muscles to allow for everyday tasks to be completed. Some doctors prescribe amitriptyline, which assists a patient in swallowing saliva.
There are alternative measures that can be utilized to reinforce the quality of life after diagnosis. A nutritionist is typically assigned to the patient to keep a healthy diet that will not hinder the performance of medications as well as to keep the weight loss to a minimum. Wheelchairs and braces may also be used to help strenghthen and reinforce weak limbs and neck. Breathing machines are common because the muscles used in breathing are affected immensely and generally cause a patient to suffocate. Physical and occupational therapy is also recommended for patients to help them learn how to use wheelchairs and braces. These assistive devices can be used to help the patients strengthen and reinforce weak limbs and neck. Speech therapy is another treatment used for patients to teach them how to speak more clearly and also how to use computers to communicate. Mental health care is another treatment used for patients with ALS. This is used to assist patients who are becoming depressed about losing their muscle functions. Family support is also provided so that the patient's family can connect with different ALS support groups.

Although there is no cure, there are newly developing therapeutic treatment methods that can cause the effects of ALS to be significantly slowed by a drug that would prevent aggregation of a ubiquitous enzyme.

Prognosis
Most patients are not diagnosed with ALS until their fifties. From then, there is a steady progression in loss of control over one's body and movements. The life expectancy after diagnosis is three to five years, with 20% of all patients living longer than five years.



Citations/Resources

http://ukpmc.ac.uk/abstract/MED/10193591
http://sdevoto.web.wesleyan.edu/343/readings/cleveland_rothstein2001.pdf
http://en.wikipedia.org/wiki/Lou_Gehrig#2.2C130_consecutive_games
http://www.alsa.org/about-als/what-is-als.html
http://www.mayoclinic.org/lou-gehrigs-disease/