ALS Family Ties
By Jen Christensen
Posted: Wednesday, September 26, 2007 at 9:20 a.m.

ALS
ALS (Amyotrophic Lateral Sclerosis, also known as Lou Gehrig’s disease) is a condition that causes gradual deterioration and death of the nerve cells that control voluntary muscles. Initially, patients may notice unexplained weakness in a hand, arm, foot or leg. Other early signs may include twitching, cramping or stiffness of the muscles.

Gradually, the weakness spreads to other parts of the body. Speech becomes slurred and patients may have difficulties with chewing or swallowing. As the hand and arm muscles weaken, simple tasks, like writing, grasping objects, or buttoning clothing, become more difficult. Walking is also affected. At first, patients may trip or stumble. Eventually, they are unable to take a step or stand. A feeding tube may be needed to prevent choking and ensure adequate nutritional intake. When the muscles of the diaphragm are affected, patients may need a ventilator to get enough oxygen into the body. Most patients eventually die from respiratory failure. The average survival time from the point of diagnosis is 3 to 5 years.

The ALS Association estimates about 30,000 Americans have ALS. More than 5,600 new cases are diagnosed each year. Most people are between 40 and 60 at the time of diagnosis. However, the condition can be diagnosed in younger and older people. Men are affected more often than women.

There is no cure for ALS. Currently, the only approved treatment is a medication called riluzole (RILUTEK®), which helps prolong the life of motor neurons and delays progression of symptoms. The drug can’t reverse motor neuron damage, but may increase life expectancy by several months. Other treatments, like physical therapy, occupational therapy, speech therapy, nutrition therapy and supplemental oxygen, aim to improve quality of life and relieve symptoms.

Genetics and ALS
In most cases of ALS, the cause is unknown (called sporadic onset). The symptoms are believed to be the result of environmental factors and a genetic predisposition for the disease. About 5 to 10 percent of ALS cases run in families (familial ALS) and are due to a genetic mutation.

The most common genetic mutation associated with ALS is SOD1 (superoxide dismutase 1), located on chromosome 21. About 20 percent of familial ALS cases can be traced to this mutation. Normally, SOD1 protects the body by detoxifying free radicals. The mutated gene appears to produce an enzyme that is toxic to motor neuron cells.

Researchers at Emory University in Atlanta are studying families with the SOD1 mutation to gain more specific information about the disease. Michael Benatar, M.D., Ph.D., Associate Professor of Neurology and Epidemiology, says currently, gene testing can determine if a person has the defective gene. But there is no way to know when symptoms may appear. People with familial ALS and their families are asked to undergo genetic testing and to fill out a questionnaire about lifestyle and possible toxic environmental exposures (like smoking or pesticides). Eventually, the information may lead to clues about better diagnosis and treatment.

The investigators will analyze the data and look for clues that may help them find ways to delay or prevent the onset of symptoms. Families who would like to participate will be sent a kit to submit a saliva sample for DNA testing and a questionnaire. For information call (888) 413-9315.


AUDIENCE INQUIRY
For information about the study, log onto http://www.clinicaltrials.gov. Then, type the trial identification number into the search box: NCT00317616.

For general information on ALS:
ALS Association, http://www.alsa.org
Muscular Dystrophy Association, http://www.als-mda.org
National Institute of Neurological Disorder and Stroke, http://www.ninds.nih.gov