Reversal of untreatable genetic neuromuscular disease SBMA on keto

(Todd Allen) #21

Wilhelm, I’ve experienced many ups and downs. The ups are mostly winning, by several measures though not all, I’m at my best fitness in years. I have periods of a week or two or three of great progress making rapid gains in strength and endurance and then something goes wrong and my performance declines dramatically, sometimes I know why such as an injury, sometimes I find likely explanations such as a mold problem at home, a periodontal infection and other sicknesses but other times it’s hard to tell why things go well or bad. Sometimes I suspect it is due to a supplement or dietary choice though it takes time and repeated testing to gain much confidence in what things or combination of things make a difference.

Don’t be afraid of losing weight, be afraid of losing muscle. Being lean is good. Our disease creates a tendency for fat to accumulate in places such as the liver and muscles where it causes damage. Having unstable high blood glucose and high serum triglycerides (metabolic syndrome) is a sign fat is accumulating in those places. With advancing age this becomes an issue for most people not just those with our disease and when it happens most people though not all find a keto diet can be a potent tool to lower insulin, reverse insulin resistance, reduce the energy substrates circulating in blood and reduce the ectopic fat resulting in dramatic improvements in health.

Processed foods with rapidly digested carbohydrates: added sugars, fruit juices, starches from flours, etc. tend to be the most problematic and avoiding those is a good first step. I think the best approach is to get a blood sugar testing kit such as used by diabetics and check blood sugar before and after meals and avoid foods that significantly impact your blood sugar. The next most important thing is to develop habitual strength promoting exercise practices and track the results so you can evaluate progress to help guide lifestyle choices. I’m becoming a huge fan of strength focused calisthenics - squats, lunges, sit ups, push ups, pull ups, etc. done briefly but often with loading that maximizes exertion and heart rate elevation as quickly as possible. In addition to diet/nutrition/supplements and exercise there are other important factors such as optimizing sleep, stress management, toxin avoidance and developing a positive mental state and drive to make the most of what you have got because it does make a difference.

It’s a huge topic which I want to address in book form though I’m still in a stage of rapid learning and revision. I have many thoughts but little certainty. I’ll use this forum’s private messaging feature to send you my email address for personal discussion.

(Tim Block) #22

Hi Todd!
Great Posting! Since I seem to have some kind of SBMA, too (testing will be in September) I´m very interested in your experiences concerning nutrition. I´m trying to follow some kind of keto diet, but with quite high amounts of protein (about 150g per day which is 2g/kg body weight; about the same amount of fat or a little bit more). Do you have the impression that too much protein could worsen our condition?

Best wishes from Germany!
Tim

(Todd Allen) #23

Welcome to the ketogenic forums Timmy! Whatever condition you may have this is a good place to learn about managing it with diet.

The short answer is anyone can eat too much protein. And anyone can eat too much fat. But what is too much varies person to person. For any individual it varies based on how much carbohydrate you are eating, how much muscle you have, how healthy your muscles are, how hard you are working your muscles, your goals and so many other factors such as quantity and quality of sleep and the amount of chronic stress.

I want to maximize muscle quantity but to get there requires maximizing muscle quality. Unforunately my muscles are choked with fat. My top priority is getting the fat out of my muscles and hopefully doing so while minimizing the loss of lean tissue. How to best do that is the important unanswerable question. But we can consider the various factors involved and learn to track results to get closer to the answer.

Ingesting protein raises insulin driving nutrients into muscle. That is good when the nutrients are the amino acids of the ingested protein and they are coming in at a rate the muscle will utilize to build new muscle protein. Insulin also drives in energy substrates, especially glucose but also triglycerides. That is also good when it matches or is less than the energy needs of the muscle. But when muscle isn’t working well the protein and energy needs are smaller and it is easy to exceed them and excess nutrients entering the muscle get stored as fat.

Insulin also inhibits the burning of fat. Metabolically unhealthy persons are prone to having high levels of energy substrate in blood circulation, both glucose and triglycerides. This results in hyperinsulinemia, chronically elevated insulin, trying to push that energy out of circulation into tissues which are becoming increasingly resistant to taking in new substrate but yet impaired in using increasing local fat stores by the high insulin.

So you need to carefully consider your medical test results of things like serum glucose, triglycerides, albumin, urea, etc. and strive to get glucose stable and normalized with low normal fasting triglycerides and insulin and high normal albumin. Measuring and tracking muscle performance and body composition are also key to evaluating how well your dietary choices are working.

(Tim Block) #24

Dear Todd! Thanks a lot for your very helpful informations and advice! Sure, Insulin and Sugar Metabolism seems to play a crucial role! Now my observation is, that in increasing protein (via Shakes) a lot of so called skinny fat gets burned. But at the same time, consuming pure protein seems to increase fasciculations in my case (quite soon after consuming a shake, fasciculations occur. Is this a good or a bad sign?) My thoughts have been, that the amount of nutrinal protein may somehow increase the toxic misfolding of polyglutamin in our disease, so that a rather low protein intake might be better. On the other hand, muscle activity might show, that some kind of repar mechanism is being activated. Unfortunately, there seem to be no studies about the influence of high protein intake on the development of diseases like SBMA. Do you mind staying in touch via private message or email? Best wishes, Tim

(Todd Allen) #25

I try to minimize all signs and symptoms of disease. Often, it’s hard to know for sure what aggravates or relieves symptoms but when the response is quick and repeatable I make adjustments to minimize symptoms. I consider fasciculations pretty minor versus things like choking, cramping, weakness, acute pain and abrupt muscle failure. But for me they all seem somewhat connected. If I’m having fasciculations I’m not at peak strength and more prone to rapid escalation to cramping or muscle failure.

I think my tolerance for protein has improved somewhat over the last couple years. I’ve got a lean body mass of roughly 47 kg and my sweet spot used to be averaging about 90 g protein/day. Now I seem to do well averaging around 110 g/day. But it isn’t at all constant. When I’m feeling great and working out very intensely I might do great for a week or two of 120-150 g/day. And then something changes and I crash back into a more diseased state of tremors, weakness and dysfunction for a few days. Often fasting or near fasting for a day or two or three breaks me out of the slump. On the other hand too much fasting when I’m doing great can trigger a crash.

Often there is an obvious trigger for my bad spells like stressful events, poor sleep or catching a cold but other times I have no clue what’s going wrong and just do my best to minimize known triggers and follow a moderate approach to diet and exercise until it passes. Fortunately over time the bad spells are coming less often and tend to be shorter and less intense.

In addition to SBMA I think I also have Crohn’s disease. It’s not black and white like SBMA. I have periodic symptoms of Crohn’s and multiple SNPs strongly linked to Crohn’s but they aren’t 100% causative like the SBMA mutation. Anyway when the Crohn’s flares up my SBMA symptoms come on quick and hard. So for me much of the benefit of eating keto may be that it tends to keep my bowels happy which is an essential first step for me to deal with the SBMA. Sometimes my SBMA flares without the Crohn’s and if it lasts more then a few days I get constipated and then the Crohn’s symptoms come on if I don’t fast. I do think keto and moderate fasting also directly benefits my SBMA but I can’t fully separate the two conditions.

(Tim Block) #26

Thanks again for you reply! These are very helpful insights! One last question, if I may: Do you take any kind of supplements? I´m currently testing quite low dose vitamin d3 and it rather seems to worsen my condition than bring any kind of benefit. But maybe my observations are wrong…

(Todd Allen) #27

If you think you are reacting poorly to the D3 supplement stop taking it for a while and see if anything changes when you stop and comes back when you resume taking it. Or try taking a different brand, maybe your issue is caused by the particular formulation.

Supplementing blindly just because something may be good is often unhelpful and can be harmful. I had the inexpensive genetic SNP ancestry test through 23andme and put the data through the free website codegen.eu for analysis which shows I have a gene associated with poor metabolism of the forms of vitamin E used in supplements putting me at high risk of liver damage from them. I also have poor conversion of vitamin A from plants and supplements so I eat a little liver every day which has the active form. I have genes affecting methylation with a tendency for elevated homocysteine so I monitor it and take care to eat foods high in active forms of B vitamins and supplement a bit when needed.

I used to fear the sun, thought it was my genetics, I’m blond hair, blue eyes, very light skin and I burned so easily I wouldn’t go out without a hat or sunscreen. But since going keto and doing other things to improve my health I have excellent tolerance for sunshine and get vitamin D by taking a walk each day at lunch time. Living in Chicago there are winter days when it is too cloudy and cold to to get enough sun. I supplement with 2,000 IU D3 on those days which keeps my vit. D blood test results in the high normal range.

Eating keto it is important to take in enough electrolytes especially sodium due to increased excretion. I also add a little magnesium, potassium and sometimes calcium to my foods. I take numerous other things mostly in the form of foods, such as eating red meat for creatine, carnitine, carnosine, B12, etc. but sometimes take things in supplement forms too.

A food/supplement I use specifically for SBMA is white peony root, paeonia lactiflora, which contains paeoniflorin a compound found beneficial in mouse models of SBMA promoting the clearance of mutant AR protein via autophagy. It is a popular chinese herbal medicine considered fairly safe but I haven’t seen studies of its use in humans for SBMA. Unfortunately the effect, if beneficial, is a long term slow thing and not something I can measure or judge in the short term. To minimize risk of chronic use I take it during my weight loss phases when fasting or aggressively cutting calories might synergistically ramp up autophagy. I used to buy it as an extract but recently switched to buying dried root and making my own extract.

There are numerous other foods/compounds which may boost autophagy. Trehalose is one which has also been found beneficial in SBMA mice, but as it is a glucose sugar it is keto unfriendly and I rarely use it and only in moderation taking care to keep my blood sugar stable and my ketones up. Green tea, licorice, tumeric and numerous other foods are considered weak autophagy promoters and I use them somewhat often, especially during weight loss phases.

There are so many other things that have been found beneficial for SBMA and I have been experimenting with many of them but it is hard to evaluate the effectiveness of each and I’m still sorting out what things I like. Some approaches, like blocking testosterone, I haven’t explored because I find them unappealing. I haven’t yet tried human trialed clenbuterol because it is dangerous and I’d have to buy it from a veterinary supply and manually adjust the dosage. The drug pioglitazone I found incredibly potent and somewhat helpful back when I was prediabetic but not worth the side effects to continue using and now that my blood sugar is excellent it probably would have minimal benefit.