Amyotrophic lateral sclerosis Health Article

Definition

Amyotrophic lateral sclerosis (ALS) is a fatal disease that affects nerve cells in the brain and spinal cord that are responsible for movement. The motor neurons (nerve cells which send an impulse to illicit muscular contraction or movement) in an ALS patient die as a result of rapid degeneration. Voluntary muscles, controlled by motor neurons, lack proper nourishment and will weaken and atrophy (shrink) as a result. Examples of voluntary movement include stepping off of a curb or reaching for the top shelf. These activities rely on the muscles of the arms and legs. Paralysis sets in at the endstages of ALS and leaves the patient unable to function physically, despite remaining mentally intact. There are no known causes or cures for amyotrophic lateral sclerosis, and the disease can afflict anyone. The usual cause of death is paralysis of the respiratory muscles which control breathing.

Description

Amyotrophic lateral sclerosis is a progressive disease of the central nervous system. "A" means "no," "myo" implies muscle cells, and "trophic" refers to nourishment. The nerve cells that extend from the brain to the spinal cord (upper motor neurons), and from the spinal cord to the peripheral nerves (lower motor neurons), for unexplained reasons, degenerate and die. "Lateral" refers to the areas of the spinal cord that are affected, and "sclerosis" occurs as hard tissue replaces the previously originally healthy nerve.

The parts of the body that are not affected by ALS are those areas not involved in the use of motor neurons. The mind remains very sharp and in control of sight, hearing, smell, touch and taste. Bowel and bladder functions are generally not affected. Amyotrophic lateral sclerosis rarely causes pain, yet leaves patients dependent on the care of others during advanced stages.

At any given time there are about 30,000 people in the United States with amyotrophic lateral sclerosis, and about 5,000 new cases are reported each year. ALS progresses rapidly and paralyzed patients are usually under the intensive care of nursing facilities or loved ones. This can have a devastating psychological effect on the family members and the patient. In most cases, ALS is fatal within two to five years, although approximately 10% live eight years or more.

Amyotrophic lateral sclerosis is not a rare disease. ALS affects approximately seven people out of every 100,000. Most people with ALS are between 40 and 70 years of age. Approximately 5–10% of cases show a heredity pattern.

ALS, or Lou Gehrig's disease, is named after the great New York Yankee's first basemen. Lou Gehrig, known as the "Ironman" of baseball, died two years after he was diagnosed with amyotrophic lateral sclerosis.

Genetic profile

In 1991 a team of ALSA researchers linked familial ALS to chromosome 21. In 1993 it was found that there were structural defects in the SOD1 (superoxide dismutase) gene on chromosome 21. The SOD1 gene is an enzyme that protects the motor neurons from free radical damage. There is a high incidence of ALS on the island of Guam, in the Western New Guinea and on Kii peninsula of Japan leading some theorists to believe that genetic makeup may be susceptible to an environmental cause, such as the high levels of mercury and lead in these areas.

The inheritance pattern is autosomal dominant, which means that children of an affected parent have a 50% chance of inheriting the disorder. The majority of cases are due to a sporadic gene mutation, which means the mutation ocurrs only in the affected person. It is thought that sporadic mutations result from both biological and environmental causes. In rare cases, a mutation in NFH, the gene encoding for neurofilament (a structure that maintains cell shape) is apparent. Familial amyotropic lateral sclerosis has been linked to other chromosomal locations but the exact genes involved have not been identified. The Institutional Review Board at Thomas Jefferson University in Philadelphia recently approved the ALS gene therapy project. The goal of the project is to inject an adeno-associated virus carrying a normal copy of an EAAT2 gene into an ALS patient's spinal cord where the motor neurons are dying. The hope is that the cells in that area will not die off.

Demographics

Amyotrophic lateral sclerosis affects anyone and both men and women are at equal risk. ALS may occur at any age, and the odds of developing it increase with age. There have been reported cases of teenagers with ALS. A person only needs to inherit a defective gene from one parent to cause the disease.