Genetic Testing

My dad has possible MSA-C. It has been suggested by the Neurologist that he gets genetically tested to see if this is in his genes or it’s just ‘bad luck’. My understanding is that MSA is not hereditary however research is ongoing and the Neurologist I think, wants to rule this out. As his daughter, I have been offered genetic counselling. As I understand it MSA cannot be definitely diagnosed until after death. It’s all up in the air and I am not sure if I want to know to be honest. Life is for living.

[TK-67]

It's never come up with any of our discussions with consultants - mum probably has MSA-P as she was a PD diagnosis first. The MSA Trust has always said that isn't hereditary, we were also told that a definite diagnosis isn't possible until a PM however I am hearing that some consultants here and in the states seem to be diagnosing from scans, I'd be interested in what your neurologist finds genetically? My dad died at 67 from a rare brain tumour, we already feel very unlucky to have both parents diagnosed with such rare conditions, I honestly don't think I would want to know.

[Hidden in reply to TK-67]

Hello TK-67. You have my empathy with regards to both your parents being diagnosed with rare conditions. It is unlucky as you say, and not knowing any more is understandable. I am with you on this one. I honestly do not want to know what the future holds for me health wise. I used to work in a hospital and some patients' lives and that of their families were centred around endless appointments in the hope that their situation would improve. It became their restricted life: One upsetting consultation visit after another. Not to mention their side effects from medication etc. For some, it helped but for most that I witnessed it was just endless worry. I understand and am proud of our NHS but I am also pragmatic. I do not wish to know all the details about MSA. Like my Dad, I choose freedom. Freedom from worry and just to get on. Having a probable diagnosis of MSA just left me wanting to research it more, just in the hope... Now, I do not wish to know anymore. I just want to live each day as best I can. Ironically, though there is this; if I can share my experience with anyone and it helps, then that is what I will do. It is just my experience and there is no right or wrong. We can only do what we can do. Sending best wishes and hope that my message offers some comfort and support.

[Yanno]

I totally agree, life is for living - whatever form that takes. I’ve never heard of even the remotest suggestion that MSA could be hereditary. It always surprises me that neurologists who it’s so hard to get time with then waste time on such a wild goose chase!Take care, Ian

[Rhyothemis]

It seems necessary to do genetic testing in order to rule out spinocerebellar ataxias or CANVAS. jnnp.bmj.com/content/92/4/4...

Getting the most accurate diagnosis possible could impact stuff like treatment options - e.g., dopamine replacement therapy is sometimes used in MSA, but not for SCA. Some SCAs are treatable:sciencedaily.com/releases/2...

It could also affect the results of clinical trial data, should your father choose to participate in one.

There have been a couple of familial cases of MSA reported in the literature - a German family and a Japanese family. The Japanese family responded to CoQ10:

europepmc.org/backend/ptpmc...

Could early CoQ10 supplementation delay onset in other members of the Japanese family? No way to know, but it seems plausible.

Also plausible is the potential for regular aerobic exercise to delay onset in any number of neurological diseases, as it has been shown to slow progression in Parkinson's and reduce ataxia severity in cerebellar ataxia.

pubmed.ncbi.nlm.nih.gov/292... (note it was specifically high intensity training that reduced PD progression)

pubmed.ncbi.nlm.nih.gov/320...

[Hidden]

Hello Rhyothemis. Thank you for your counter argument on my post. It is good to read another perspective on this. However, from my perspective and ownership of experience this is a degenerative disease/condition. My opinion is that I do not wish to have my life stretched out beyond its elastic life so to speak. Give me quality over longevity any day. I’m talking about MSA here…. Since Dad has been in hospital, he has been assessed, reassessed, etc and has yet to be provided with a wheelchair to get outside. That should be a priority not drug trials for him so that he can feel sick with side effects. This is only my personal opinion but the benefit of this Forum is the balance of opinions it provides. Sending good wishes and let’s continue to speak out.

[Rhyothemis in reply to Hidden]

Delaying onset (symptom onset) does not mean stretching out time in the disease state, quite the opposite.

I've experienced symptoms similar to my father's early symptoms (probable MSA-C); my LUTS are under control now, but I still have very bad insomnia and constipation can wax and wane. I was deliberately poisoned with rotenone around 30 years ago. My daughter suffered a bout of neuroleptic malignant syndrome (NMS) from Reglan - quite rare. It seems to indicate a problem / difference in some aspect of dopaminergic function runs in the family.

[Hidden in reply to Rhyothemis]

Oh dear. I am so sorry to read that. What an awful experience to go through. We were told by our Neurologist that there was nothing that my dad could have done to delay or change the deterioration of his probable MSA. It really was just bad luck. Therefore my feelings are based on this. If you are in the UK, this is also supported by the MSA leaflets etc. I really do wish you all the very best.

[Rhyothemis in reply to Hidden]

I know that is what they say, especially in the UK (I am dismayed by the NHS policy on SCA testing for under 18 year olds). Given what is known about the biology of mitochondria, it is quite implausible that nothing can be done to delay onset of SCA and similar diseases, but of course it cannot be proven definitively in a clinical trial given the rarity of these diseases and that an interventional trial would have to be conducted over the course of years, possibly decades.

My daughter and I are both carriers for the medium chain acyl-CoA dehydrogenase deficiency gene; the gene makes the enzyme that metabolizes medium chain triglycerides (MCT) . I experience hypoglycemia attacks and bouts of lethargy if I consume lots of saturated fat containing MCTs. I discovered this just by restricting my sat fat intake in my early 30's in an attempt to improve my overall health; the main dietary recommendation for improving health at the time was to reduce sat fat. Then my well meaning mother-in-law said - not all sat fat is bad, try coconut oil. I love coconut so I thought why not and then I tried it and my hypoglycemia and lethargy came back. Years later I did 23andme just for fun and I found out I'm an MCAD carrier. I suspect my father was also; he had a bout of otherwise unexplained rhabdomyolysis during his the latter part of his course of MSA ( he was not on statins). He did not have a history of hypoglycemia attacks but the stress of his illness could have pushed his metabolism over the edge. He had a sister who had history of hypoglycemia.

If I knew 20 years ago what I know now, I think my health would be better, but I can't complain too much. Time will tell if this is really MSA or something else. There are therapies that are being trialed for various diseases that could benefit MSA patients (ISRIB, NLRP3 inflammasome inhibitors [I'm also a carrier for MEFV - I do have bad luck, I suppose]) may become available relatively soon, possibly 5-10 years.

If I were rich I would get a doctor to prescribe me low dose rapamycin. There is a trial on for rapamycin (aka sirolimus) for MSA - don't know what the dosing level is. Low dose rapamycin is one of the interventions being trialed in the Dog Aging Project. Momo and Sherman look quite healthy and happy (and very cute):

cnn.com/videos/health/2016/...

[Hidden in reply to Rhyothemis]

Do you work in the medical profession?

[Rhyothemis in reply to Hidden]

No, I don't work anymore. I have an MSc in biology. I also have PDD-NOS and I suppose my 'special interest' is life sciences. I remember watching a documentary on Huntington's disease when I was around 12 and told my father I wanted to be a Huntington's disease researcher and he discouraged me by saying by the time I finished my education there would already be a cure (he did not think women should be scientists). Kind of ironic.

[Hidden in reply to Rhyothemis]

Aah. I thought so. The medical terminology you used made me wonder. Congratulations sister!

[Rhyothemis in reply to Hidden]

Thanks... re-reading my reply I think it might be a bit misleading in some ways. I was a professional librarian for most of my working life. My father financially supported me for my undergraduate degree in biology; I mainly studied evolutionary biology since it was interesting to me (and perhaps fewer dinnertime 'discussions' since the topics were largely theoretical?). Looking back, it seems like my father was often of two minds on things - he was an early global warming denier, but also very interested in renewable energy and green building design. I think he would have liked the Kirsten Dirksen channel on YouTube, for example. He was an amateur inventor and made models for a wave energy machine and also prototypes for golf clubs out of plastic. Exposure to certain types of plasticizer compounds is a risk factor for MSA, unfortunately. Another risk factor was probably being an amateur heavyweight boxer in his youth (head trauma).

[Rhyothemis in reply to Rhyothemis]

... just want to add that an example of the things I had wished I'd known about sooner - sauna bathing. I want to try to get a home sauna unit, but it may not work out for me at this point since I may run into issues with it causing me to overheat too much. For a while there I had stopped sweating on exertion, but I do again now (need to shower after working out) - so it might be okay. But definitely something I would have prioritized in terms of time and money if I had known - instead of viewing it as a luxury.

[Hidden in reply to Rhyothemis]

Aah yes. A Sauna. I have never been able to tolerate them, not even in my younger years. They make me feel dizzy, sick and my heart races. It's easy to look back and re-evaluate because of hind sight and all that. Sounds as though you are a very disciplined individual which I think is a good quality to have, especially when it comes to self-care etc. Good luck with your home sauna unit. It sounds like a 'medical' luxury to me and at least you can decide when to get in and out of it!

[Hidden in reply to Rhyothemis]

I've never heard of an MSA risk factor being head trauma or plasticiser compounds. I asked my Dad's neurologist about a possible head trauma but this was put down to just 'bad luck'. I have pondered this and with MSA being so rare; appreciate that there is so much to be learned. My dad sounds as conflicted as yours. He denied human factors on climate change and then insisted that recycling was carried out properly... I should write a book!

[Rhyothemis in reply to Hidden]

head trauma is considered a risk factor for PD, I'm making a bit of an assumption in extrapolating to MSA

some environmental risk factors for MSA are listed here:

pubmed.ncbi.nlm.nih.gov/182...

[chester2107]

i was told it isn’t genetic , but i don’t think doctors know enough yet , no way would I have a test, as you say life is for living , I wouldn’t want it hanging over my head my dad didn’t get any symptoms until he was in his late 70 s

i spoke to a lady at a msa meeting and she was doing research on it , they say a lot of cases are to do with head injuries or some sort of head trauma , my dad played a lot of football when he was younger , and the footballs were really heavy , so that could have caused it , so i’m keeping my fingers crossed it isn’t hereditary ❤️

love elaine x

[Hidden in reply to chester2107]

I like your spirit Elaine. Everyone is different and it is such a personal feeling too. There’s no right. There’s no wrong. I like to have the conversation because I find isolation in feelings and thoughts even harder. It’s good to share and listen to different opinions.

[chester2107 in reply to Hidden]

yes definitely x

[Andrashko]

My husband has MSA-C and has done DNA testing, not really "genetic" testing, because there is no "test" that I'm aware of that can specifically point out MSA. The DNA testing does show what vitamins/minerals he was deficient in. So as far as being able to know what supplements or foods to help his body where he is deficient, it is definitely worth doing. My husband has gone from not being able to have a bowel movement for 5-7 days, to having consistent bowel movements daily. I do believe your diet and vitamin/mineral deficiency does play a big role in this disease.