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Wednesday, June 19, 2013
Inherited Disorders and Birth Defects
I heard a doctor on t.v. say that people who get ALS have a genetic disposition to it and that they have a problem detoxifying things like pesticides. I also read that a gastroenterologist said that people who take acid reducing meds have a problem detoxifying things because the medication and the harmful substance compete in the body to get out. I take zantac for gerd. Does that put me at risk for Lou Gerigh disease?
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that attacks the nerve cells in the brain and spinal cord. Motor neurons go from the brain to the spinal cord and from the spinal cord to the muscle cells. In ALS, the motor neurons degenerate and are unable to send signals to some of the muscles of the body. This may cause weakness, muscle wasting, muscle cramps, muscle twitching as well as problems with speech and swallowing. Eventually the motor neurons can die and lead to paralysis.
The diagnosis of ALS is based on clinical features, electrodiagnostic testing (EMG ), and ruling out other health conditions with similar types of problems.
ALS is inherited in only in a small percentage of families. Only about 10% of persons with ALS have a close second family member with ALS, which is referred to as familial ALS (FALS). Most patients with ALS (90%) have no family history of ALS, and are the only case in the family. This is called sporadic ALS (SALS). There may be underlying genetic risk factors involved, but SALS is not directly inherited in a family. Rare exceptions are when familial ALS (FALS) is masked due to an incomplete family history, such as if the patient is adopted.
There is a gene test available for those families in which ALS is familial. Genetic testing for changes (mutations) of the SOD1 gene on chromosome 21 can be used in people with a positive family history (another affected family member) to establish a specific diagnosis and to decide the type of inheritance for the family.
I do not know about problems patients with ALS may have regarding detoxifying chemicals or whether taking Zantac would be a problem for patients with ALS. The cause of the most common form of ALS, the type that is not inherited is not known. A great deal of research is currently being done. If you do not have ALS in your family, the chance you would develop ALS is probably small.
If you have concerns regarding ALS you should talk to your doctor or a neurologist. The website below may also be helpful in getting more information.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University