Facts On ALS Disease: Symptoms, Causes And Treatment

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By Addah Arcilla | August 21, 2014 2:18 PM EST

Can you imagine a disease that locks your entire body or immobile you that even the simplest act of swallowing and breathing become a labored task? Most of the 350,000 people living in the world with ALS, this is the reality that they have to live with everyday. Read along to learn how this rare neurologic disease affects the body and how you can be at-risk for it.

What is ALS?

ALS stands for amyotrophic lateral sclerosis, a progressive neuromuscular disease that damages motor neurons in the brain and the spinal cord. A-amyotrophic-trophic are Greek words that means "no muscle nourishment". "Lateral" identifies the area in the spinal cord where neurons that signal and control the muscles are located. "Sclerosis" refers to the eventual scarring and hardening in this region as the neurons degenerate and dies away.

ALS is often referred to as Lou Gehrig's disease, after the famous baseball player for the New York Yankees who was diagnosed with the disease in the 1930s. It is also known as motor neuron disease and maladie de Charcot, after the French doctor who first wrote about ALS in 1969.

People who have ALS experience a progressive degeneration of motor neurons in the brain and the spinal cord. The progressive degeneration of motor neurons eventually leads to their death. When motor neurons die, the brain loses its ability to initiate and control muscle movement. As a result, the muscles become smaller and weaker, progressively affecting voluntary movement. Eventually, people in the later stages of ALS may become totally paralyzed.

What causes ALS?

The majority of ALS cases occur spontaneously. To date, except in cases where ALS is hereditary, the cause of ALS is still unknown. Nonetheless, studies on the possible causes of ALS are underway and these include studies on genetic mutation, effects of disproportionate glutamate levels and disorganized immune response.

Only 10% of all known ALS cases are familial or hereditary. Familial ALS is caused by genetic mutations. According to the ALS Research Collaboration at the University of Miami, two in 10 cases of familial ALS is caused by a mutation in the SOD1 (superoxide dismutase) gene, while one out of 25 cases are caused by mutations in the FUS (fused in sarcoma) and TDP-23 (tar-DNA binding protein-43) genes.

What are the symptoms of ALS?

Muscle weakness is the most common early signs of ALS, appearing in about 60% of people diagnosed with this disease.  Early symptoms may appear differently in people, but usually includes:

  • Difficulty walking, tripping or doing daily activities;
  • Weakness in the legs, feet or ankles;
  • Weakness in the hands or clumsiness;
  • Difficulty holding the head up or keeping a good posture;
  • Twitching and cramping of muscles, especially those in the arms, shoulders, tongue, hands and feet;
  • Slurred speech and difficulty in projecting the voice;
  • Difficulty swallowing; and
  • Uncontrollable periods of laughing and crying.

The disease usually affects the hands and feet first and then spreads to other parts of the body. The muscle weakens progressively as the disease advances and eventually affects chewing, swallowing, speaking and breathing. When breathing muscles become affected, the ALS patient will need a ventilatory support to survive. Respiratory arrest is a common cause of death.

ALS does not affect the patient's cognition, bowel control and sensory functions as it only affects motor neurons. . People with ALS can perfectly interact and engage with family and friends with no trouble.

Who is at-risk of developing ALS?

The Mayo Clinic lists the following risk factors in the development of ALS:

  • Age: Most people who develop ALS are between the ages of 40 and 60. However, ALS can also occur in people in their 20s and 30s.
  • Sex: Men are 20 percent more likely to develop ALS. However, the incidence of ALS between men and women becomes more equal after the age of 70.
  • Heredity: Five to 10 percent of people with ALS have familial ALS. People with familial ALS have a 50 percent chance of passing the gene that causes ALS to their children.

Fifty percent of all people affected with ALS live at least 3 or more years after diagnosis, about 20 percent live for 5 years or more and 10 percent will live for more than 10 years. Renowned physicist Stephen Hawking has battled ALS for more than 40 years.

How is ALS diagnosed?

ALS is difficult to diagnose because its symptoms may appear similar to other neurologic disorders. Diagnosis is established through clinical examination and through the conduct of a series of diagnostic tests to rule out other disorders mimicking ALS. These procedures may include:

  • Electromyogram;
  • Nerve conduction velocity;
  • Myelogram of cervical spine;
  • Muscle and nerve biopsy;
  • Magnetic resonance imaging;
  • Spinal tap; and
  • Blood and urine tests.

How is ALS treated?

Currently, there is no cure for ALS and its irreversible effects. Treatment focuses on slowing the progression of the disease, preventing complications and helping the patient achieve and maintain a better quality of life.

A drug called Riluzole is used to halt the progression of ALS. It works by reducing the levels of glutamate, a chemical messenger in the brain that is often elevated in people with ALS.

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