Handbook of 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: Notes The information in this outline was last updated in 2002.