Is genetic testing of value for ALS patients?

January 19, 2018 – Patients suffering from amyotrophic lateral sclerosis (ALS) find value in genetic testing for the disease, whether or not they have a family history of the condition, according to findings from a survey conducted by U.S. researchers, just published in the November 2017 issue of Molecular Genetics & Genomic Medicine.

ALS, also known as Lou Gehrig’s disease, is a specific disease which causes the death of neurons controlling voluntary muscles. ALS is characterized by stiff muscles, muscle twitching, and gradually worsening weakness due to muscles decreasing in size. This results in difficulty speaking, swallowing, and eventually breathing.

The investigators surveyed 449 ALS patients (45 with familial ALS and 404 with sporadic ALS). In all, 156 survey respondents (34.7%) reported that they had been offered genetic testing for ALS and 105 that they had completed it. Of 75 patients who recalled the result, 21 (28%) said the result was a positive disease finding.

Genetic testing had been offered to more than two-thirds of the patients with familial ALS and to less than one-third of the patients with sporadic ALS. Most survey respondents reported good experiences with the genetic testing process, with at least 70% agreeing with most survey statements that described the experience in favorable terms. The survey statements that fell below that threshold were those about whether a doctor/care team had explained what the results mean (59%) and whether the test results were useful to family members (62.5%). Respondents who tested positive for an ALS mutation did not have significantly less favorable responses about their testing experiences, compared to those who tested negative. The authors interpret this finding to mean that getting bad news did not negatively impact (the) perception of the testing process.

For that, it is important to know about the  genetic background of ALS as it is known today.  About 5–10% of cases are directly inherited from a person’s parents. Overall, first-degree relatives of an individual with ALS have a 1% risk of developing ALS. A defect on chromosome 21, which codes for superoxide dismutase, is associated with about 20% of familial cases of ALS, or about 2% of ALS cases overall. This mutation is believed to be transmitted in an autosomal dominant manner, and has over a hundred different forms of mutation. The most common ALS-causing mutation is a mutant SOD1 gene, seen in North America; this is characterized by an exceptionally rapid progression from onset to death. The most common mutation found in Scandinavian countries, D90A-SOD1, is more slowly progressive than typical ALS, and people with this form of the disorder survive for an average of 11 years. In 2011, a genetic abnormality known as a hexanucleotide repeat was found in a region called C9orf72, which is associated with ALS combined with frontotemporal dementia ALS-FTD, and accounts for some 6% of cases of ALS among white Europeans.

Many patients with ALS have questions about why they developed the condition. ALS genetic testing can help patients understand whether their condition is caused by a known ALS gene. If a harmful change is found in one of these genes, the patient has a genetic form of ALS and could become a candidate for gene-specific clinical trials or other studies. A genetic counselor could then also provide specific information about the chance that children and other family members might carry the same gene.

Also, some specific genetic forms of ALS may be associated with a faster or slower progression of symptoms. In these cases, the genetic testing can help to predict the progression of symptoms, which is another piece of information that patients are interested in. Because there is currently no specific treatment for genetic forms of ALS (outside clinical trials), it is certainly not the case that patients would not be interested in genetic testing. Quite the contrary might apply, and the apomediary and educated patient of today would like to know about every single aspect of his/her disease.

Given the relatively less favorable responses to survey items about doctors’ explanations of results and the results’ value to family members, as it emerged from the study, the authors suggest that patients could benefit from more extensive discussion of the complex issues surrounding transmission, penetrance, and testing of family members. They conclude that their findings support the practice of offering testing to all ALS patients.

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thassodotcom Ph.D.; Professor in Pharmacology and Toxicology. Senior expert in theragenomic and personalized medicine and individualized drug safety. Senior expert in pharmaco- and toxicogenetics. Senior expert in human safety of drugs, chemicals, environmental pollutants, and dietary ingredients.
8 comments on “Is genetic testing of value for ALS patients?
  1. Christina Musella says:

    I was diagnosed with ALS (amyotrophic lateral sclerosis) 15 months ago. At that time riluzole was prescribed. I found I could not tolerate it. did very little to help me. The medical team did even less. My decline was rapid and devastating. The psychological support from the medical centre was non-existent and if it were not for the sensitive care and attention of my primary physician, I would have died. There has been little if any progress in finding a cure or reliable treatment. My ALS got significantly worse and unbearable because of my difficulty catching breath. Last year, i started on a natural ALS Herbal therapy from Green House Herbal Clinic, i read a lot of positive reviews from patients who used the treatment and i immediately started on it. I had great relief with this herbal treatment. I am doing very much better now, no case of shortness of breath or difficulty swallowing,, my ALS condition is totally reversed.

  2. Theresa Christensen says:

    theresachristensen

  3. Corrine Gaffin says:

    i was diagnosed 2011. i was diagnosed with the bulbar form of ALS and was given one year to live. My symptoms progressed quickly. Soon i was having difficulty breathing, swallowing and even walking short distances. With the help of Natural Herbal Garden natural herbs I have been able to reverse my symptoms using diet, herbs, which i feel has made the most difference. The ALS natural formula immensely helped my condition, it reversed my ALS. my slurred speech. And then the inability to eat without getting choked, breathing, and coughing. gradually disappeared. Visit NATURAL HERBAL GARDENS via their official web-site I’m now playing golf again. and i turned 69 today. i am glad to get my life back DON’T GIVE UP HOPE!!!

  4. Rathlogo says:

    HEALTHY

    Don’t panic! ALS (amyotrophic lateral sclerosis) can be reversed. I have had ALS since I was 45 years old. Am now 55 years old living ALS FREE. A great way to reverse ALS completely is with natural herbal remedy called ALS herbal remedy introduced by BEST HEALTH HERBAL CENTRE. This product will reverse your ALS within 5-6 weeks of usage.

  5. Yvonne Andrews says:

    My father had ALS (amyotrophic lateral sclerosis) for 3 years His first symptoms were weakness in his hands and losing his balance which led to stumbling and falling. He never lost the ability to swallow or breathe. His one hand, then his legs, were affected first; then his arms. The Rilutek (riluzole) did very little to help him. The medical team did even less. His decline was rapid and devastating. The psychological support from the medical centre was non-existent and if it were not for the sensitive care and attention of his primary physician, he would have died . There has been little if any progress in finding a cure or reliable treatment. So this year his primary physician suggested we started him on Natural Herbal Gardens ALS Herbal mixture which eased his anxiety a bit,We ordered their ALS herbal treatment after reading alot of positive reviews, i am happy to report this ALS herbal treatment reversed my dad condition. His quality of life has greatly improved and every one of his symptoms including difficulty in walking and slurred speech are gone. Their official web site is ww w. naturalherbalgardens. c om He will be 74 soon and can now go about his daily activities

  6. chantelle says:

    My ALS (amyotrophic lateral sclerosis) symptoms started out with muscle weakness, stiffness and slurred speech. My primary physician prescribed riluzole and radicava to reduce symptoms and slow down progression but I could not tolerate them for long due to severe side effects. I decided to adopt a more natural approach and started on ALS Herbal formula from RICH HERBS FOUNDATION, the ALS natural formula immensely helped my condition, i had a total recovery from ALS with this natural herbal formula treatment. Rich herbs foundation official web site ww w. richherbsfoundation. co m. I feel alive again!

  7. HOWELL JOE says:

    I was diagnosed with ALS in April 2017 and I decided to fight this naturally by better diet, natural herbs, organic food, and eliminating all toxins in my life. I can gladly say my fight is over, after using ALS herbal remedy I purchased from Best Health Herbal Centre, the herbal remedy drastically slowed my progression the first week of usage and reversed my ALS the last week of usage. I used the ALS herbal remedy for only six weeks.

    I am a man of faith and I believe that when HOPE is lost ALS wins. Believe you can beat this disease naturally and have faith that nothing is bigger than God.

  8. Corrine Gaffin says:

    i was diagnosed 2011. i was diagnosed with the bulbar form of ALS and was given one year to live. My symptoms progressed quickly. Soon i was having difficulty breathing, swallowing and even walking short distances. With the help of Natural Herbal Garden natural herbs I have been able to reverse my symptoms using diet, herbs, which i feel has made the most difference. The ALS natural formula immensely helped my condition, it reversed my ALS. my slurred speech. And then the inability to eat without getting choked, breathing, and coughing. gradually disappeared. Visit NATURAL HERBAL GARDENS via their official web-site www. naturalherbalgardens. com. I’m now playing golf again. and i turned 69 today. i am glad to get my life back DON’T GIVE UP HOPE!!!

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