Neurological Conditions

How do doctors diagnose Lou Gehrig's disease?
Answered by Science Channel
  • Science Channel

    Science Channel

  1. Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, has many symptoms to help you and your doctor recognize it. ALS is classified as a degenerative disease, which means as the disease progresses, a person affected with ALS will experience more symptoms and increases in symptom severity. They may experience clumsiness or difficulty speaking or swallowing, and muscle twitches and cramps are typical. People with ALS often have fatigue in their limbs and lose weight from loss of muscle mass. Sometimes, people experience emotional incontinence, which is uncontrolled laughing or crying. In later stages, people with ALS may have difficulty breathing and exaggerated reflexes. ALS can mimic the symptoms of other diseases, such as Parkinson's, making it difficult to diagnose.

    Researchers have noticed a trend among people with ALS showing changes or mutations in a gene called superoxide dismutase (SOD1). They can test for a faulty SOD1 with a simple test, but only 20 percent of people with a certain kind of ALS have this. No one test works in every case, but there are many tests to help doctors diagnose ALS. Electromyograms can detect electrical activity in muscles, and nerve conduction velocity tests measure the speed of nerve signals. X-rays, CT scans, MRIs and even spinal taps often are used to detect abnormalities in the brain and spinal cord associated with ALS. Other helpful tests include blood and urine samples and muscle or nerve biopsies.

    Most people with ALS will die within three to five years of diagnosis, usually from respiratory failure or pneumonia. However, about 10 percent of people with ALS live longer as new treatments continue to be introduced [source: ALSA].

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