LOU GEHRIG’S DISEASE

Lou Gehrig’s disease, also known as Amyotrophic lateral sclerosis, or ALS, is a progressive nervous system disease that affects the motor neurons or nerve cells that control muscle movement. “Amyotrophic” is derived from the Greek language, which simply means “loss of muscle nourishment.”

ALS is characterized by progressive degeneration of both upper and lower motor neurons most likely to excitotoxicity from increased levels of the neurotransmitter glutamate. ALS causes the motor neurons to shrink and die, which causes failure of the brain to initiate transmission of movement signals to the muscles. The muscles gradually become smaller and weaker, which leads to paralysis.

TYPES

Sporadic

The most common form of the ALS disease without any known cause and may affect anyone, anywhere. It accounts for 90 to 95% of all cases in the U.S. Though this is not mainly genetic, it can occasionally be associated with gene mutations.

Familial

This ALS form likely has a genetic basis and accounts for five to 10 percent of all cases in the U.S. In families associated with familial ALS, an offspring has a 50% chance of inheriting the gene mutation.

SYMPTOMS

  • Slurred speech or swallowing problems
  • Stumbling and falling
  • Muscle cramps and twitches
  • Difficulty in doing regular daily tasks
  • Cognitive or memory problems and changes in personality
  • Worsening posture
  • Difficulty in breathing

DIAGNOSIS

  • Electromyogram (EMG). Neuromuscular neurologists test muscle and nerve function by measuring electrical signals in your muscles when they contract and when they’re at rest.
  • MRI.  Your doctor may want you to undergo an imaging scan using radio waves and powerful magnetic fields. A non-invasive medical test used to take pictures of the inside of your body. It helps caregivers see and evaluate problems more efficiently. 
  • Blood and urine tests. A laboratory test analyzing your blood and urine samples might help your doctor determine and eliminate other possible causes.
  • Lumbar puncture. A sample of your spinal fluid is analyzed for spinal tumor assessment and checked for certain possible cancers. This procedure is done by inserting a special small needle between two vertebrae in your lower back spinal canal.
  • Muscle biopsy. While under anesthesia, a sample of your muscles is sent to a lab for analysis.

TREATMENT 

  • Riluzole (Rilutek). An oral drug is taken as a tablet and a suspension. It helps to increase life expectancy by three to six months. Your doctor will monitor blood counts, and liver functions as this drug can cause side effects.
  • Edaravone (Radicava). An intravenous medication used to help reduce the decline in daily functioning. Side effects include headache, shortness of breath, and bruising.
  • Speech therapy. Speech therapists teach you adaptive techniques to improve your speech. Speech-generating devices with text-to-speech applications or computer-based equipment with synthesized speech can help those with slurred speech.
  • Physical therapy. Physical therapists can address pain and difficulty in walking and moving. They can help you get stronger and maintain your cardiovascular fitness, muscle strength, and range of motion.
  • Occupational therapy. An occupational therapist helps people across the lifespan to make the most of the abilities you still have. They help promote health and live better despite hand and arm weakness.
  • Breathing care. As your muscles weaken, you will eventually experience respiratory depression. Doctors might test and provide you with devices to help you breathe more easily.
  • Nutritional support. Your team of caregivers and your family can help you get enough nutrition through a feeding tube. 

There is no prevention or cure for this fatal disease, and it may take months to know for sure that someone has Lou Gehrig’s disease, but treatments are available to control symptoms. As researchers are in the progress of learning more about this disease, funded associations are on the verge of developing more treatments and a cure for ALS.

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