Genetic Testing for ALS

Genetic Testing for ALS

Genetic Testing for ALS - ALS is directly hereditary in only 10 percent of families. The vast majority of ALS cases are sporadic, meaning that although there is likely a genetic predisposition involved, ALS is not directly inherited in a family.

Although there is a genetic test for ALS, it is still quite limited. In 20 percent of families with inherited ALS, a change in the gene called SOD1 on chromosome 21 has been found, however, 80 percent of families with inherited ALS do not show a change in their SOD1 gene.

Scientists are diligently looking for other genes that may be involved in ALS, but currently, there is no other genetic test that will identify ALS in families. Therefore, the determination that an individual has the inherited type of ALS is typically based on family history rather than a genetic test.

If you have some symptoms of ALS and there is someone in your family that has had ALS, such as a parent, grandparent, aunt, uncle, or brother or sister, you may wish to undergo genetic testing.

Keep in mind, however, that the SOD1 gene mutation will be present in only about 20 percent of families with ALS, and that in the other 80 percent of families there are still other unidentified genes that cause ALS.

A positive test means that the genetic cause of ALS has been identified, whereas a negative test means that ALS may still be present in families, but the gene is unidentified.

Some people may wish to be tested if there is someone in their family with ALS, even if they themselves do not show any neurological symptoms. This is called "presymptomatic testing", and can only be done if the family member that has ALS has the mutation in the SOD1 gene. If the family member with ALS does not have this gene, testing cannot be done, since it is an unidentified gene that is causing the ALS.

Also, it is important to know that even if you are diagnosed with the mutated SOD1 gene, this does not mean that you will automatically and definitely get ALS; however, if you do carry the gene, you may wish to use this knowledge to make important lifestyle changes, which may help to defer or even prevent the onset of the disease.

It may be wise to start following some of the ALS dietary and supplementary suggestions that have been put forward by various professionals, many of which can be found on this web site.

For more information on genetic testing, you may contact:

The National Society of Genetic Counselors
401 N. Michigan Ave.
Chicago IL 60611

The Les Turner ALS Foundation
8142 North Lawndale Ave
Skokie IL 60076

The test is a blood test that is sent to a specialized lab. Because 5 different parts of the SOD1 gene need to be looked at, the testing usually takes 2 - 3 months. The cost can be $300 - $500 depending on the lab that is doing the testing.

The vast majority of cases of ALS are sporadic, meaning they have no clear cause. A current favored theory combines genetics with environmental toxicity, meaning that ALS occurs in those with a genetic predisposition to the disease, and that the disease is then triggered by an environmental insult.

In other words, you may be genetically predisposed to the illness, which is then triggered by a combination of environmental factors such as metal or chemical toxins, mycoplasma or viruses, and/or an excess of glutamate. Dr. Jeffrey Rothstein of Johns Hopkins University found that 42 percent of sporadic ALS patients have a defect in the gene that controls the protein EAAT2, a protein which helps to regulate the brain's glutamate levels.

View our Diagnosing ALS page.

More Information on Alternative Support Therapies for ALS
Other Useful Information for People with ALS

Useful Tests
The following tests may be extremely useful for people to both tailor your therapeutic supplements program and to chart your progress.
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Detoxification Therapy
There is growing evidence that environmental toxins play a major role
in numerous neurological disorders.
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pH Balance Therapy
A balanced body pH is crucial to any healing program. The cause of disease, according many experts, is over acidification, from diet, stress, toxins, etc.
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Antioxidant Therapy
Most of you have heard of antioxidants and know that they are good for you.  Antioxidants are substances that neutralize free radicals. 
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Herbal Therapy
Herbs that have beneficial properties
to support neurological health.
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Vitamins and Minerals
Vitamins & minerals that can be useful for people with neurological symptoms.
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Viral & Bacterial Support
Scientists have long surmised that
there may be an infectious component to neurological symptoms, and while
this has not been proven, it would be prudent to take natural and safe substances that effectively rid the body of viruses, bacteria and mycoplasma. 
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Supportive Supplements
Here is an additional list of supplements that may also be helpful for people with neurological challenges. 
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ALS Links and Resources
The following organizations may
provide much useful information for people with ALS/MND.
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Causes of ALS
While the actual cause of ALS/MND remains unknown, there are presently several theories being put forward. 
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Early Symptoms of ALS
The onset of ALS/MND is often very subtle – these are the initial symptoms to watch for.
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Genetic Testing for ALS
ALS/MND is hereditary in only 10 percent of families.  The vast majority of ALS cases are sporadic, meaning that although there is likely a genetic predisposition involved, ALS is not directly inherited in a family. 
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Diagnosing ALS
ALS/MND is one of those diseases that is very difficult to diagnose.  There is no one test that will definitively tell you whether you have ALS. 
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ALS and Dental Amalgams
The use of mercury “silver” amalgams in dental fillings has been an accepted practice in the United States for more than one hundred years.  Therefore, most people assume that their “silver” fillings are safe and non-toxic. Not so.
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Dietary Regimen for ALS
This part of the ALS/MND protocol requires following a very specific dietary regime. This may be the most challenging aspect for many people with ALS. 
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Medications for ALS
There are various medications that are being prescribed for people with ALS/MND as their symptoms progress.
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Stem Cell Therapy
There is a huge and widespread interest in the ALS/MND community in stem cell therapy, both in how it is helping people with ALS today and how it may benefit people with ALS in the future. 
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