Worsfold Family: Living With Duchenne

Duchenne muscular dystrophy is a rare, progressive and ultimately fatal genetic disorder that mainly affects boys. In Canada, there are about 800 boys living with the disease.
Learn more about Duchenne and the impact of the disease as described by the Worsfold family from Toronto, Ontario.

[@MalikAsif-yg5ip]

My nephew passed away at the age of 15 on friday 12 November 2021 due to this MD Ducheen
I seen and watch and observed him very clously 😭😭 bad diseases

[@28.8.21]

When will Medication available.

[@jaysimoes3705]

Well...nothing that will cure it.Deflazacort and prednisone are able to postpone the detoriation for a couple of years. With side effects that differ a bit from person to person. What people could do is go for an alternative route which is by using nutraceuticals that are (pretty) safe to use. We must realise that there are a lot of quite promissing neutraceuticals out there but for some reason, after initial testing most are not followed up by Phase II let alone Phase III trials. So either tey are in vitro or mostly performed on mdx mice. Mice are not humans and there are quite a few examples where the dystrphic mouse got a lot better but humans weren't. It still to my mind is very sad that there is ample of focus on pharmaceuticals which especially remain to be proven safe over so many years and very little on nutraceuticals that are know to be safe and have done well in prelimanairy testing.
Having said all that, it seems to be more than reasonable to get kids with Duchenne Resveratrol. Ina very recent study people with either BMD and DMD had significant benefit even while those tested were already in advanced stages (DMD 10 yrs old or more, BMD up to 30 yrs or more). The authors themselves noted that to them you should start using RSV as soon as possible. In this case it was given orally 3 x 500 mg per day. Adverse effects were mild and going back to 1000 mg resolved the side effects which happened on one patient. Other studies suggest 25 mg/kg which translates into (say a 15 Kg child) 375 mg/day.
Curcumin is another substance with a lot of promise. Long story short: you should go for a liposomal form (which re readily available) since it is almost not bio-available in its standard form (well: very little is bio available in the standard powder form).
Creatine: most studies show a reasonable effect and it seems very safe. Advised dosage: 0,2 gr/Kg. So if the kid weighs 15 Kg it is 3 gram best on an empty stomac in the morning.
CoQ10: some studies show effects others not so much. Note that quite a few studies looked for instance nly at the heart but not at, say, the calfs muscles...
Omega3 Fish oil: psitive effects on various markers. Seems to be better in this case to go for oil that is higher in DHA than in EPA which is atypical.
Green Tea Extract: most studies show improvement. Look up research on this.
N acetyl cystein produced incredible effects in mice and (I believe) also in humans. But: at a 0,2% in mouse feed it ALSO had serious adverse effects. This tends to be a high dose. Most tests in mice are at 0,1%. In a study in 2019 it led to strong upregulation of Utrophin and had very significant effects on DMD (MDX) mice. But: this one is tricky and I would not use it without regular checkup with your doctor.
Interesting preliminairy results: N-acetyl Glucosamine. Dosage unknown but it stabilises the cellmembrane and leads to a firmer attachment of the sarcolemma resulting in elss tears. First indication is that it works like a shock absorber. But dosageunknown as it is tested as we speak in mice right now. Not glucosamine. It has to be 100% pure NAG (N acetyl d glucosamine). This is a very safe products with little evidence though but it is now tested for Duchenne for a reason.
Astaxantin: to me it is mindboggling why no one has tried this on dystrophic muscles. It is a very very potent anti oxidant. It is very safe and has produced significant results in people with various froms of muscle atrophy. It also showed a very significant drop in footballplayers CK levels after excessive training. Ataxanthin stabilises the cellmebrane due to the way it positions itself in the cell. It leads to mitophagy and brings down quite a fewmarkers in those people that are also elevated in Duchenne. In cell lines with even modest amounts of astaxanthin easily obtainable due to a supplement the effects on muscles was striking. No proof at all that it would work in Duchenne but I would try it.
Epicatechin: seems to be a bt liek Astaxanthinin its effects, again it was not tested in Duchenne but is test in now in BMD. No muscle stbilsation but it leads to mitophagy and has had very signiicant effects on people with diabetis and sarcopenia.
In general with all these things try to get the right dosage out of scientific literature on the subject and get your kid checked by your octor and if you want to go this route inform your doctor. It might be that some of these substances interact with prednisone etc.

[@chanabayla1823]

There is a genetic test for this. Guess the parents didn't get it

[@np100]

No, there is not. No doctor asks you to get a test because there isn't one. It is a very rare genetic disease.

[@jaysimoes3705]

What is that supposed to mean? When you do not suspect something, why would anyone test?