Amyotrophic Lateral Sclerosis or Lou Gehrig's Disease: Aging Begins at 30: Virtual Hospital

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Aging Begins at 30

Amyotrophic Lateral Sclerosis or Lou Gehrig's Disease

Ian Maclean Smith, M.D.
Emeritus Professor
Department of Internal Medicine
University of Iowa Hospitals and Clinics
Creation Date: June 2001
Last Revision Date: June 2001
Peer Review Status: Internally Peer Reviewed

It's amyotrophic because the muscle supplied by the dead nerve cells wastes away; lateral because it affects the side of the spinal cord; and sclerosis because if you feel the cord in that region at autopsy the tissue feels very hard. It's Lou Gehrig's because the record-breaking first baseman and hitter died of it aged 38 in 1941. It is an adult-onset disease first described in France by Charcot in 1874. The disease affects men more than women and usually after age 40. Cells that are motor in function in the brain and spinal cord die and can no longer send messages to the muscles. There are signs of involvement of the brain to cord nerves (upper motor neurons) and of the cord to muscle nerves, (lower motor neurons). Most cases are sporadic, but about 5% occur in affected families. One unusual site for ALS is Guam where the disease is 50 times as prevalent as elsewhere. Viruses and prions have been looked for as a cause and not found.

Initially the symptoms are difficulty in swallowing, slurred speech, and painless weakness in the hands or legs. The affected muscles show fasciculations that are rippling contractions seen through the skin or in the tongue. There is no curative treatment, although Rilutek (formerly Riluzole), an anti-glutamate medicine, adds months to patients' lifespan but does not relieve symptoms. At least 14 other drugs have been tested in controlled clinical trials and found to be ineffective. The disease progresses and patients usually die in three to five years, when the muscles controlling breathing fail. The brain, consciousness, eye movements and bladder muscles do not fail.

The diagnosis is made on the bedside findings alone and is correct in at least 95%. Electromyographic evidence of denervation in at least three limbs confirms the diagnosis. It has to be distinguished primarily from myasthenia gravis an autoimmune disease causing muscle weakness and from multifocal motor neuropathy with involvement of the lower motor neurons only and which has effective treatment.

In 1991 the familial disease was found on a gene on chromosome 21, which coded for an enzyme super oxide dysmutase but this is absent in the sporadic disease. There is also a buildup in the chemical glutamate (a message transmitter in the brain) because it is not reabsorbed as it should be. Glutamate can destroy neurons when in a high enough concentration. In some patients, calcium is too high because antibodies destroy removal-enzymes. In other patients, the genes preparing neurofilament proteins that support the nerve fibers are deranged. While this may seem confused it now presents to pharmacologists many sites where the disease might be reversed by well-designed drugs. ALS at present is a fatal disease.

Fellow traveler diseases, (associated but not constant companion diseases) are dementia, Parkinson's disease, and Hodgkin's disease.

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See related Patient Topics Amyotrophic Lateral Sclerosis or Brain and Nervous System.

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