genetic

Thought this was an interesting article about a research project called "Answer ALS" where PALS can help to collect clinical, genetic, behavioral, molecular and biochemical data on people living with ALS. Using artificial intelligence and machine learning, researchers plan to analyze the data to...

Hello everyone. I come back with an update about genetic test. They found CACNB4 gene mutations on my father with CACNB4 variants: NM_001330115,: exon6,: c.G518A,: p.R173Q, Chr2. That's a autosome dominant and I'm 75% able to carry a mutant. I'm currently waiting for my own genetic test results...

Hello, I want to share with you our story in full. There are bits and pieces all over the forum, but I wanted to gather everything together. My father received a final diagnosis of MND yesterday. My father (60) started experiencing symptoms quite a while ago, around the winter of 2016. He...

Hello everyone, I 'm french, my father died of als in 2015, he had done genetic testing but the results went after his death and then nobody told us anything. We all assume that it was sporadic. Then, in 2016 my sister went under a IVF procedure and needed the results, bingo: c9orf72. At this...

friend of mine, older 10 years, diagnosed is with neuralgic amiotrophy (complete different diagnose, even has it almost the same symptoms). doesn't know what to do with money, so just called her doctor and not knowing what she asks, she asked: "please how can i test for that disease...hm... als...

Hi everyone - I am seeing my primary care doctor tomorrow but wanted to get your opinion on my situation seeing as you have so much experience in this area. My uncle passed away in Spring 2017 from ALS (he was late 60s) and my dad was just diagnosed with ALS (he is 74). I'm considering getting...

Hi, My husband has the C9orf72 gene mutation and so my children are at risk. They don't want to know. My question is this, Do I tell the family? There are sibliings, cousins, niece's and nephews also at risk and totally unaware of this. They know my husband has bvftd but not that it is...

Hello everyone. I am new to this forum and site. First, I just want to say that my thoughts and prayers are with everyone who’s life has been touched in any way by this horrible disease. My 66 yr old father was recently diagnosed with ALS in April 2018. We don’t know of any other family...

Thank you for adding me/us to the forum. In brief, here is our story: My husband lost his mother to ALS when she was 59 years old. She had one aunt, one uncle, and two first cousins who also passed from ALS. There were a couple other family members who may or may not have had early signs, but...

I'm going to try to keep this short and start by saying I'm actively trying to get into a neuro at the local hospital that deals with neurodegenerative diseases. Through genetic testing (legit, medical testing done by a Dr.) I was found to have a mutation of the FIG4/ALS11/Sac3 gene. It's...