Genetic counseling: Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS)

What is ALS?

 * a degenerative disease of the nervous system, affecting the brain cells (motor neurons) that carry impulses from the brain and spinal cord to the muscles
 * results in muscular weakness and the progressive wasting of muscles that have lost their nerve supply
 * the most common form of motor neuron disease
 * patients have difficulty speaking, swallowing, and breathing
 * death usually follows within 3 to 5 years
 * onset commonly occurs between the ages of 35 and 65
 * slightly more common in men than in women
 * 5-10% of ALS cases are familial
 * The gene is inherited as an autosomal dominant genetic trait and is located on the long arm of chromosome 21
 * 90% of ALS cases are sporadic, with no obvious genetic cause
 * manifests differently amongst patients, likely due to environmental agents interacting with genetic susceptibility
 * ALS strikes 2 to 7 out of every 100,000 people in the USA
 * no specific treatment yet exists, and patients can be aided only by supportive therapy
 * ALS is also called Lou Gehrig's disease after the baseball star who died of it

Symptoms

 * early symptoms include slight muscle weakness, clumsy hand movements, and/or difficulty performing tasks that require delicate movements of the fingers and/or hands
 * muscular weakness in the legs may cause tripping and falling
 * difficulty swallowing (dysphagia)
 * speech may be slowed
 * progressive weakness of the lips and impairment and/or loss of function of the tongue, mouth, and/or voice box (bulbar symptoms)
 * leg cramps may occur during the night, most frequently in the calf and/or thigh muscles
 * uncontrolled twitching of muscles (fasciculations)
 * exaggerated deep muscle reflexes.
 * severe weight loss occurs in approximately 5% of cases
 * increased risk for respiratory failure and abnormally low levels of oxygen in the blood
 * increased risk for acute inflammation of the lungs, caused by the inhalation of food or stomach contents (aspiration pneumonia).
 * an overall decrease in the ability to move may also result in inadequate nutrition

Resources and Support Groups

 * The ALS Association
 * the only national not-for-profit health agency dedicated to the fight against ALS
 * the mission of The ALS Association (ALSA) is to find a cure for and improve living with amyotrophic lateral sclerosis
 * toll-free information and referral service available to patients, caregivers and family members, staffed by ALSA Patient Service Co-ordinators.
 * 1-800-782-4747 (Monday through Friday 7:30am to 4:00pm PST)
 * to reach ALSA's Patient Services department by e-mail, contact alsinfo@alsa-national.org.
 * Suite 150
 * 27001 Agoura Road
 * Calabasas Hills, CA 91301
 * (818) 880-9007
 * 


 * NIH/National Institute of Neurological Disorders & Stroke (NINDS)
 * 9000 Rockville Pike
 * Bethesda MD 20892
 * (301) 496-5751
 * (800) 352-9424


 * ALS Canada:
 * ALS Society of British Columbia: