Lou Gehrig's/ ALS

Jaskirt & Alyssia

Is Lou Gehrigs's the same as ALS?

· Lou Gehrig was known as professional baseball's "Ironman"

· At the peak of his career, he was diagnosed as having ALS

· Died 2 years later, at age 39

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What is ALS?

· Rapidly progressive, neuromuscular disease

· Attacks the motor neurons transmit electrical impulses from the brain to muscles

· Muscles fail to receive messages = lose strength, atrophy and die

· Average life expectancy after diagnosis: 3 to 5 years

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Gene Mutation of ALS

· C9ORF72

o This gene, discovered in 2011, is the most common genetic cause of ALS (position of an “open reading frame” on chromosome 9)

o Mutations in this gene account for between 25% and 40% of all familial ALS cases gene mutation and act in a dominant manner

o How this gene causes ALS is unknown

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Symptoms

· Early signs/symptoms

    • Difficulty walking, tripping or difficulty doing your normal daily activities
    • Weakness in your leg, feet or ankles
    • Hand weakness or clumsiness
    • Slurring of speech or trouble swallowing
    • Muscle cramps and twitching in your arms, shoulders and tongue
    • Difficulty holding your head up or keeping a good posture
  • Disease begins in your hands, feet or limbs, and then spread
  • Muscles become progressively weaker
  • Affects chewing, swallowing, speaking and breathing
  • Usually doesn’t affect bowel or bladder control, senses or thinking ability

Diagnosis


· difficult to diagnose early because it may appear similar to other neurological diseases

· Tests to rule out other conditions:

o Electromyogram (EMG)

§ Inserts a needle electrode through your skin into various muscles

§ Evaluates the electrical activity of your muscles when they contract and rest

    • Nerve conduction study
      • This study measures your nerves' ability to send impulses to muscles in different areas of your body
    • Magnetic resonance imaging (MRI)
      • produce brain and spine image
    • Blood and urine tests
      • Analyzing samples of your blood and urine
    • Spinal tap (lumbar puncture)
    • Remove a sample spinal fluid for analysis
      • Inserts a small needle between two vertebrae in your lower back and removes a small amount of cerebrospinal fluid
    • Muscle biopsy
      • Portion of your muscle is removed and analyzed
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Medication

· ALS cannot be reversed

· Treatments: slow down progress of symptoms and prevent complications

  • Riuzole (rilutek) is the only medication approved by the Food and Drug Administration for ALS


  • Slows down the progression of symptoms and disease

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Therapy

· Breathing care

· Physical therapy

· Occupational therapy

· Speech therapy

Risk Factors

  • Heredity
  • Age
  • Sex/Gender

· Environmental factors

    • Smoking
    • Lead exposure