Handbook of Genetic Counseling/Amyotrophic Lateral Sclerosis
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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
- 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 firstname.lastname@example.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
The information in this outline was last updated in 2002.