Is genetic testing of value for ALS patients?

Last Updated on

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.

Print Friendly, PDF & Email

Tags: , , , , , , , , , ,
About the Author
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.

Leave a Reply

Optional: Social Subscribe/Login




avatar
  Subscribe  
Notify of
ROLIS
Guest
ROLIS

Fellow ALS patients, I’m taking BEST HEALTH HERBAL CENTRE ALS(Amyotrophic Lateral Sclerosis)HERBAL FORMULA daily for 6 weeks and 5 days now. 2 to 4 weeks after I started this treatment my ALS progress stopped and my health condition start’s to improve. I continued with this treatment and during this time I achieved more and more improvement- My hands and legs are much stronger, my breathing is much better and many other things improved much. THIS FORMULA HAS SUCCESSFULLY STOPPED AND REVERSED MY ALS !!!! I advise you to contact BEST HEALTH HERBAL CENTRE India or SA branch via their homepage… Read more »

http://twitter.com/descargar_hq
Guest

Descargar facebook
I do agree with all of the concepts you’ve offered in your post.
They’re very convincing and will certainly work.
Still, the posts are too short for newbies. May
you please extend them a little from next time?
Thanks for the post. Descargar facebook

minecraft
Guest

Very great post. I simply stumbled upon your blog and wished to mention that I have truly enjoyed browsing your weblog posts.
In any case I will be subscribing for your rss feed and I hope you
write again very soon!

Corrine Gaffin
Guest
Corrine Gaffin

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… Read more »

Member

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… Read more »

chantelle
Guest
chantelle

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!

Yvonne Andrews
Guest
Yvonne Andrews

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… Read more »

Rathlogo
Guest
Rathlogo

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.

Corrine Gaffin
Guest
Corrine Gaffin

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… Read more »

Theresa Christensen
Guest
Theresa Christensen

theresachristensen

Christina Musella
Guest
Christina Musella

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… Read more »

thasso: conditions

thasso: tweets

thasso post: magazine

View my Flipboard Magazine.

thasso: categories

thasso: archives

thasso: simple chat

You must be a registered user to participate in this chat.

  • Distinct social profile and high ASD risk, 3q29 deletion survey finds July 19, 2019
    A survey of 93 people with 3q29 deletion syndrome reveals a distinct pattern of social disability and anxiety, even without a diagnosis of autism spectrum disorder. The results were published online in Molecular Autism on July 16.
  • Study sheds light on the darker parts of our genetic heritage July 19, 2019
    More than half of our genome consists of transposons,DNA sequences that are reminiscent of ancient, extinct viruses.Transposons are normally silenced by a process known as DNA methylation, but their activation can lead to serious diseases. Very little is known about transposons but researchers in an international collaboration project have now succeeded for the first time […]
  • Molecular cause for severe multi-organ syndrome July 19, 2019
    Three unrelated families on three continents (from continental Portugal, the United States and Brazil), all with healthy ancestors, had children with a very rare multi-organ condition that causes early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature.
  • Researchers determine epigenetic origin of docetaxel-resistant breast cancer July 19, 2019
    Researchers at the Bellvitge Biomedical Research Institute (IDIBELL) have published a study in Molecular Cancer Research in which they identify methylation patterns associated with different subtypes of breast cancer, and a subclassification of the group of "triple negatives," a breast cancer type typically associated with poor prognosis. In addition, they identified changes in DNA methylation […]
  • Researchers report the function of reverse-twisting DNA July 19, 2019
    Normally, the two strands of the DNA double helix wind around each other in a right-handed spiral. However, there is another conformation called Z-DNA in which the strands twist to the left. The function of Z-DNA has remained a mystery since its discovery. A newly published paper unambiguously establishes that the Z-conformation is key to […]
Top