The Disease Without A Cure


Amyotrophic Lateral Sclerosis (ALS)

or Lou Gehrig’s Disease

  • What is ALS?
    • A group of rare neurological diseases of the neurons responsible for controlling voluntary muscle movement.
    • The disease is considered progressive, the symptoms get worse over time.
    • There is no cure for ALS and no effective treatment to reverse symptoms or stop the degradation of the cells.
    • Gradual deterioration and death of motor neurons. These neurons are the nerve cells that extend from the brain and down to the spinal cord eventually to muscles throughout the whole body.
    • The affected motor neurons fail to provide the communication links between the brain and the voluntary muscles.
  • What Causes ALS?
    • ALS has two main forms with different causes.
      • Sporadic ALS
        • Can happen to anyone, anywhere anytime for unknown reasons relating to the environment or other factors.
        • 90%-95% of all ALS cases are Sporadic.
      • Familial ALS
        • This form is inherited. In these families, there is a 50% chance each offspring will inherit the gene mutation and may develop the ALS.
        • Probably caused by a protein that forms a mutant SOD1 protein becoming toxic.
        • Makes up remaining 10%-5% ALS cases.
    • Sporadic ALS (most ALS) causes
      • There isn’t consistent data between any environmental factor and the risk of developing ALS.
      • Common factors:
        • Infections
        • Physical Trauma
        • Toxic Agents
        • Diet
        • Strenuous Physical Activity
  • What does a life with ALS look like?
    • The beginning symptoms:
      • Muscle twitches in the arm, leg, shoulder, or tongue
      • Muscle cramps
      • Tight and stiff muscles
      • Muscle weakness affecting the arms, legs, neck or diaphragm.
      • slurred and nasal speech
      • Difficulty chewing or swallowing.
    • How is ALS diagnosed?
      • ALS is usually diagnosed based on the medical history of the symptoms by a physician during a physical examination with a series of tests to rule out other similar diseases.
    • Ability to control muscle movements is lost.
      • Because of the lack of communication to the muscles from the brain, voluntary movements are uncontrollable. These are common abilities that are lost due to ALS:
        • Speech
        • Eating

        • Limb Movement
        • Facial movement
        • Abdominal control
        • Breathing (Most Severe)
    • 3-5 Years
        • Life expectancy of people after first symptoms appear. Less than 15% have been known to survive past 10 years. The disease is almost always fatal. Fatalities are usually due to loss of ability to breath.
  • Who Has ALS? Who’s Lou Gehrig?
    • 20,000+ people are affected by ALS in the United States at any given time.
    • 55-75 years, most people who develop the disease are in this age range. Although, cases happen in people much younger.
    • Veterans are twice as likely to develop the disease. This could be due to exposure to lead and chemicals found in explosives.
    • Bringing ALS sufferers into light
      • Lou Gehrig was a baseball star, his fame and death from ALS put the disease in the public eye and sparked a national conversation.
  • How do we treat ALS?
    • Although there’s no cure and no treatment to relieve symptoms, there’s support.
      • Teams of nurses and physicians design treatment plans and provide special equipment to keep people as mobile, comfortable, and independent as possible.
      • Methods include:
        • Medication
        • Physical therapy
        • Speech therapy
        • Nutritional support
        • Breathing support
        • Emotional support groups
    • Medications
      • Riluzole can reduce damage to motor neurons.
      • Glutamate transports messages between nerve cells and motor neurons.
        • Clinical trials show that this drug can prolong survival by a few months, but does not reverse the damage already done to motor neurons.
      • Some medications to help manage symptoms of ALS, including muscle cramps and excess saliva. Some can halt involuntary episodes of emotional displays.
      • Drugs also are available to help individuals with pain, depression, sleep disturbances, and constipation.
    • Physical support
      • Therapists suggest devices such as ramps, braces, walkers, and wheelchairs that help individuals conserve energy and remain mobile.
      • Aids such as computer-based speech use eye-tracking technology help people respond to yes-or-no questions with their eyes or by other nonverbal means.
      • Feeding tubes reduce the risk of choking that can result from inhaling liquids into the lungs.
      • Breathing tube through the mouth may surgically create a hole at the front of the neck and insert a tube leading to the windpipe (tracheostomy).
  • Further research for ALS?
    • New treatment possibilities
      • Therapies for ALS are being searched for in a range of disease models (animals with the disease). This involves tests of compounds, gene therapies, antibodies, and cell-based therapies.
      • For example, scientists are currently investigating if lowering levels of the responsible enzyme in the brain and spinal cord of individuals with corresponding gene mutations will slow the rate of disease progression.
    • Most promising technique – Therapy
      • Since a mutated SOD1 gene corresponds to developing ALS, this gene can be given to mice models to research effective gene therapies. A gene known as VEGF can be administered to the nuclei of neurons in the epithelial cells via vectors (edited and controlled virus).
      • This gene blocks the synthesis of the toxic protein created by a mutated SOD1 gene in the nerves of the spine.
    • Human studies are being done with other potential remedies.
      • Although these studies have found positive results for mice, humans have not undergone this gene therapy.
      • Other researchers are studying the use of glial-restricted progenitor cells (that can develop into other support cells) to prolong the progression of ALS and help those affected breathe freely. These exploratory treatments are being tested in people with ALS.


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