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Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease

Early signs and symptoms:

  • Difficulty walking or doing your normal daily activities
  • Tripping and falling
  • Weakness in your leg, feet or ankles
  • Hand weakness or clumsiness
  • Slurred speech or trouble swallowing
  • Muscle cramps and twitching in your arms, shoulders and tongue
  • Difficulty holding your head up or keeping good posture

ALS often starts in the hands, feet or limbs, and then spreads to other parts of your body. As the disease advances and nerve cells are destroyed, your muscles progressively weaken. This eventually affects chewing, swallowing, speaking and breathing.

ALS doesn't usually affect your bowel or bladder control, your senses or your thinking ability. It's possible to remain actively involved with your family and friends.

Diagnosis


Amyotrophic lateral sclerosis (ALS) is difficult to diagnose early because it may mimic several other neurological diseases. Tests to rule out other conditions may include:

  • Electromyogram (EMG)— During an EMG, your doctor inserts a needle electrode through your skin into various muscles. The test evaluates the electrical activity of your muscles when they contract and when they're at rest.
  • Nerve conduction study— This study measures your nerves' ability to send impulses to muscles in different areas of your body. This test can determine if you have nerve damage or certain muscle diseases.
  • Magnetic resonance imaging (MRI)— Using radio waves and a powerful magnetic field, an MRI produces detailed images of your brain and spinal cord. An MRI can spot spinal cord tumors, herniated disks in your neck or other conditions that may be causing your symptoms.
  • Blood and urine tests— Analyzing samples of your blood and urine in the laboratory may help your doctor eliminate other possible causes of your signs and symptoms.
  • Spinal tap (lumbar puncture)— Sometimes a specialist may remove a sample of your spinal fluid for analysis. A specialist inserts a small needle between two vertebrae in your lower back and removes a small amount of cerebrospinal fluid for testing in the laboratory.
  • Muscle biopsy— If your doctor believes you may have a muscle disease rather than ALS, you may undergo a muscle biopsy. While you're under local anesthesia, a small portion of your muscle is removed and sent to a lab for analysis.

Treatment


Treatments can't reverse the damage of ALS, but they can slow the progression of symptoms, prevent complications and make you more comfortable and independent.

Two medications are currently approved by the Food and Drug Administration for the treatment of ALS.

Riluzole (Rilutek) — This drug appears to slow the disease's progression in some people, perhaps by reducing levels of a chemical messenger in the brain (glutamate) that's often present in higher levels in people with ALS. Riluzole is taken as a pill and may cause side effects such as dizziness, gastrointestinal conditions and liver function changes.

Edaravone (Radicava) — The FDA approved edaravone in 2017 based on six-month clinical trial that showed it reduced the decline in daily functioning associated with ALS. The drug is given via intravenous infusion (typically 10-14 days in a row, once a month), and side effects may include bruising, gait disturbance, hives, swelling and shortness of breath.