My Brother Has Been Diagnosed With Muscular Dystrophy

[Ryan999]

Hello,

Recently my brother has been diagnosed with muscular dystrophy, specifically myotonic dystrophy type 1. He first noticed weakness in his extremities and an inability to release his grip at normal speed. He is a 32 year old male. Through communications with some members here it seems cortisol and estrogen might be involved. Below is what he's been taking over the past year or so to see if things could improve... which they have: digestion has improved, vitamin D levels went way up (from 14 ng/mL to 44 ng/mL) cholesterol has increased from 120 to 198 and he's gained some healthy weight). I am also posting his recent blood labs. We're hoping to reverse all symptoms and if anyone had any insights or advice that would be awesome and we would be really grateful. Thank you.


Supplementation:

• Every evening for the past year he's been taking 15 mg of progesterone and 5 mg of DHEA orally.
  
  
• In the last month he's added an additional 15 mg of progesterone and 5 mg DHEA in the morning. So that is a total of 30 mg of progesterone and 10 mg DHEA a day, split in two. Both orally.

• 50 mg of pregnenolone daily orally.
  
  
• Small amounts of B vitamins orally from supplement from IdeaLabs

• 350 mg of niacinamide daily
  
  
• 6,000 IU's of vitamin D a day or lay on in the sun for 30 min

• 2 mg of methylene blue orally daily.

Here are his recent blood labs:

• Vitamin D = 44 ng/mL (30-100 ng/mL)
  
  
• Carbon Dioxide = 30 mmol/L (20-32 mg/dL)
  
  
• Calcium = 10.1 mg/dL (8.6-10.3 mg/dL)
  
  
• Phosphate = 3.4 mg/dL (2.5-4.5 mg/dL)

• Prolactin = 8.1 ng/mL (2.0-18.0 ng/mL)

• Parathyroid Hormone = 34 pg/mL (14-64 pg/mL)

• Total Cholesterol = 198 mg/dL (<200 mg/dL)
  
  
• Total testosterone = 620 ng/dL (250-857ng/dL)

• TSH = 2.65 mIU/L (0.4-4.5 mIU/L)

• DHT = 62 ng/dL (12-65 ng/dL)

• DHEA = 145 mcg/dL (106-464 mcg/dL)

• A.M. Cortisol = 19.6 mcg/dL (4.0-22.0 mcg/dL)
  
  
• P.M. Cortisol = 11.6 mcg/dL (3.0-17.0 mcg/dL)

• Triglycerides = 197 mg/dL (<150 mg/dL) Marked by the lab as too high

• LDL Cholesterol = 120 mg/dL (<100 mg/dL) Marked by the lab as too high

• Glucose = 100 mg/dL (65-99 mg/dL) Marked by the lab as too high

• Potassium = 5.7 mmol/L (3.5-5.3 mmol/L) Marked by the lab as too high

 

[gaze]

How much milk/dairy and salt does he consume? Those are some great improvements you’ve posted btw, he seems to be fully on the right track

 

[lampofred]

I would highly recommend eating a sizable amt of gelatin daily

 

[schultz]

Did he make a change in his diet as well? I suspect it's largely, or at least partly, a problem of oxidative stress so focusing on lowering that would be paramount. Keeping thyroid optimal would be right up there too.

Things to consider would be aspirin and thyroid hormone. Be careful about combining a bunch of things though. The niacin is probably doing something similar to what the aspirin would do, though I am not certain.

If it were me I'd lower PUFA as low as I can and take thyroid as my first steps. Thyroid can correct things from the top down. Then I'd add progesterone (which he did).

Which progesterone product are you using? Progest-e, orally, would be good. 15mg topically would be significantly less than 15mg orally of progest-e.

Anyway I don't want to confuse things. People are going to say to take all sorts of things and he can't take 100 supplements. You've already talked to people privately so they've probably already said this stuff.

 

[Recoen]

Being unable to release muscles sounds like a nerve excitation issue. Increasing cellular respiration should help get the Ca and Na back out of the cell and K and Mg in to restore the cellular potential. His high serum K shows his cytoplasm is no longer structured correctly Gilbert Lings book, “In Search of the Physical Basis of Life” is a great read and explains a lot of this.

If the nerves aren’t working correctly, the muscles aren’t stimulated correctly which will lead to atrophy.

Watch for rhabdomyolysis.

 

[lampofred]

Being unable to release muscles sounds like a nerve excitation issue. Increasing cellular respiration should help get the Ca and Na back out of the cell and K and Mg in to restore the cellular potential. His Hugh serum K shows his cytoplasm is no longer structured correctly Gilbert Lings book, “In Search of the Physical Basis of Life” is a great read and explains a lot of this.

If the nerves aren’t working correctly, the muscles aren’t stimulated correctly which will lead to atrophy.

Watch for rhabdomyolysis.

Do you think that book would be beneficial for practical application or is it more for a theoretical understanding? I have some muscle excitation/denervation symptoms but I don't know what to do besides increasing calcium and gelatin and concentric exercise, so any source that points to additional practical steps that can be taken would be very useful for me.

 

[Recoen]

Do you think that book would be beneficial for practical application or is it more for a theoretical understanding? I have some muscle excitation/denervation symptoms but I don't know what to do besides increasing calcium and gelatin and concentric exercise, so any source that points to additional practical steps that can be taken would be very useful for me.

It’s more theoretical. Increasing ATP (CO2) production seems to be the most helpful.

Are you taking B vitamins? Some need pretty high dose B1 and biotin. Also, some do better with benfotiamine or allithiamine.

 

[james2388]

I would get his genes checked with selfhacked.com.
Around the time of 20-30's there is a progression to deeper neurological dysfunction in MTHFR gene carriers.
I wouldn't rule out a hair Analysis test out of curiosity if you can afford it.
Also he should be working with a neurologist to rule out a brain and spinal lesion. I would assume so to diagnose someone with muscular dystrophy. A cervical disc herniation can present with the same sypmtoms.
As someone else said the high serum potassium is worth looking into more. Potassium wasting can be seen in those taking high vitamin D. Extracellular swelling can impair nerve function. Electrolytes are used in transmission of nerve impulses.
Also there's been a study on boron MD.

 

[Lejeboca]

If the nerves aren’t working correctly, the muscles aren’t stimulated correctly which will lead to atrophy.

+1

Are you taking B vitamins? Some need pretty high dose B1 and biotin.

+1. From experience, in addition to B1, B6, and increase GABA.

2 mg of methylene blue orally daily.

This amount of MB feels too much to me when nerves are involved. When I manipulate MB or take too much it gives me numbness (slightly) in extremities. In this thread, the relation of MB to neuropathy has been mentioned

 

[Diokine]

Oxidative stress lowers the mitochondrial membrane potential, chronic inflammation or allergic reaction can heavily contribute to this. There is almost always some degree of insulin resistance contributing to problems with energy management.

Relation between mitochondrial membrane potential and ROS formation

Mitochondria are considered as the main source of reactive oxygen species (ROS) in the cell. For this reason, they have been recognized as a source of various pathological conditions as well as aging. Chronic increase in the rate of ROS production is responsible for the accumulation of ROS-associated damages in DNA, proteins, and lipids, and may result in progressive cell dysfunctions and, in a consequence, apoptosis, increasing the overall probability of an organism's pathological conditions. The superoxide anion is the main undesired by-product of mitochondrial oxidative phosphorylation. Its production is triggered by a leak of electrons from the mitochondrial respiratory chain and the reaction of these electrons with O(2). Superoxide dismutase (MnSOD, SOD2) from the mitochondrial matrix as well as superoxide dismutase (Cu/ZnSOD, SOD1) present in small amounts in the mitochondrial intramembrane space, convert superoxide anion to hydrogen peroxide, which can be then converted by catalase to harmless H(2)O.

This can lead to stress in the endoplasmic reticulum, the structure responsible for folding proteins. A reduction in the ability to competently fold and transport these proteins leads to something called the unfolded protein response.



ER Stress and Its Functional Link to Mitochondria: Role in Cell Survival and Death

The endoplasmic reticulum (ER) is the primary site for synthesis and folding of secreted and membrane-bound proteins. Proteins are translocated into ER lumen in an unfolded state and require protein chaperones and catalysts of protein folding to assist in proper folding. Properly folded proteins traffic from the ER to the Golgi apparatus; misfolded proteins are targeted to degradation. Unfolded protein response (UPR) is a highly regulated intracellular signaling pathway that prevents accumulation of misfolded proteins in the ER lumen. UPR provides an adaptive mechanism by which cells can augment protein folding and processing capacities of the ER. If protein misfolding is not resolved, the UPR triggers apoptotic cascades. Although the molecular mechanisms underlying ER stress-induced apoptosis are not completely understood, increasing evidence suggests that ER and mitochondria cooperate to signal cell death.

This endoplasmic reticulum stress is involved in fundamental disease pathways.


Endoplasmic Reticulum Stress in Disease Pathogenesis

The mammalian cell has evolved a complex and intertwined set of signaling pathways to respond to ER stresses, both physiological and pathological. Much remains unknown about these pathways, but it is becoming clear that ER stress and the UPR are intimately involved in many different diseases and may well play critical pathogenic roles. Understanding the molecular basis of the UPR will be important in both confirming the importance of ER stress for many diseases and designing new therapeutic modalities to treat these diseases by modulating the UPR. Note that in some disease states (e.g., pancreatic β cells in DM), it may be beneficial to relieve ER stress and/or block certain outputs from the UPR, whereas in other diseases (e.g., viral infections), inducing ER stress and/or increasing the UPR may be needed for a therapeutic effect. However, as each pathway in the UPR can lead to either cell survival or death, any new therapeutic agent must be carefully tested in suitable model organisms, to insure that unexpected side effects or even results diametrically opposite to those desired do not ensue.

Excessive accumulation of cyclic AMP from catecholamines like adrenaline can generate excessive ROS. Vitamin D is involved in the control of this process, and low vitamin D could probably contribute heavily to endoplasmic reticulum stress.



The effect of calcitriol on endoplasmic reticulum stress response


The unfolded protein response has been implicated in many types of muscular dystrophy and neurodegenerative diseases.



ER stress in skeletal muscle remodeling and myopathies

Skeletal muscle is a highly plastic tissue in the human body that undergoes extensive adaptation in response to environmental cues, such as physical activity, metabolic perturbation, and disease conditions. The endoplasmic reticulum (ER) plays a pivotal role in protein folding and calcium homeostasis in many mammalian cell types, including skeletal muscle. However, overload of misfolded or unfolded proteins in the ER lumen cause stress, which results in the activation of a signaling network called the unfolded protein response (UPR). The UPR is initiated by three ER transmembrane sensors: protein kinase R-like endoplasmic reticulum kinase, inositolrequiring protein 1a, and activating transcription factor 6. The UPR restores ER homeostasis through modulating the rate of protein synthesis and augmenting the gene expression of many ER chaperones and regulatory proteins. However, chronic heightened ER stress can also lead to many pathological consequences including cell death. Accumulating evidence suggests that ER stress-induced UPR pathways play pivotal roles in the regulation of skeletal muscle mass and metabolic function in multiple conditions. They have also been found to be activated in skeletal muscle under catabolic states, degenerative muscle disorders, and various types of myopathies.

Gene Expression Profiling in Tibial Muscular Dystrophy Reveals Unfolded Protein Response and Altered Autophagy



Activation of transglutaminase, an enzyme involved in crosslinking proteins, has been implicated heavily in muscular dystrophies.

Immune-mediated pathology in Duchenne muscular dystrophy

In a study of DMD muscle biopsies (50) using an Affymetrix microarray (HuGeneFL) and confirmed by immunohistochemistry, factor XIIIa was shown to be overexpressed concomitantly with HLA-DRα by activated dendritic cells. The function of factor XIIIa, a tissue transglutaminase, in activated dendritic cells is not clear, but it may contribute to collagen formation and fibrosis in DMD muscle. More data are clearly needed to identify the role, if any, of this factor in disease pathology

Wheat gluten is a common activator of transglutaminase and can work to seriously hamper competent calcium metabolism.


Celiac Disease Overlooked in a Patient With Becker Muscle Dystrophy

Becker Muscle dystrophy is a regressive orphan X-linked disease that will progress into hypotonia and muscle weakness involving the skeletal as well as the cardiac muscles, with increased CPK blood levels and hypertransaminasemia. Patients with Becker muscle dystrophy rarely present symptoms at early age. Here we present a patient with Becker dystrophy, increased ALT and marked digestive symptoms. The digestive symptoms were proven to be linked to a celiac disease that was overlooked due to the presence of the muscle dystrophy. It is not uncommon in areas with very high consanguinity rates to have a patient presenting two rare genetic diseases at the same time. The initiation of a gluten free diet helped improve the symptoms and the wellbeing of this patient.

Controlling ROS generation and signalling would be very important, as it would encourage calcium competency. Insulin signalling and circadian rhythm will be major factors.

I think mild loading of the skeleton through exercises like farmer's walks could be good therapy. The weight should be heavy enough to stimulate the bones. Adaptations in energy management through osteoblast/osteoclast balance and changes in osteocalcin levels can have large effects.

NAD/NADH ratios would also be important, niacinamide, nicotinamide riboside, and niacin in appropriate doses are helpful.

I have seen good evidence of high dose biotin (~10g) as being effective for multiple sclerosis and other myopathies, though evidence for muscular dystrophy is limited. It can help rescue FFA utilization and this may help reducing mitochondrial stress.

[Abnormal metabolism of fatty acids and ketone bodies in Duchenne muscular dystrophy, and the effect of biotin on these abnormalities]

 

[Ryan999]

How much milk/dairy and salt does he consume? Those are some great improvements you’ve posted btw, he seems to be fully on the right track

Yes, it's awesome to see the recovery he's made. It was a little shaky there for a moment. I encourage him to salt to taste with food and we're working on getting him a good calcium supplement because milk is upsetting his stomach at the moment.

Out of curiosity, why milk and salt as two things you think may help him? Are you thinking milk to keep parathyroid hormone low and salt too keep adrenaline low? Is that the correct line of thinking for those recommendations? Thank you for reply btw too.

 

[Ryan999]

I would highly recommend eating a sizable amt of gelatin daily

Awesome, thank you. That is not something he gets enough of. Why that recommendation for him specifically if you don't mind me asking? I'm still just trying to figure all this out. Thanks for your time.

 

[Ryan999]

Did he make a change in his diet as well? I suspect it's largely, or at least partly, a problem of oxidative stress so focusing on lowering that would be paramount. Keeping thyroid optimal would be right up there too.

Things to consider would be aspirin and thyroid hormone. Be careful about combining a bunch of things though. The niacin is probably doing something similar to what the aspirin would do, though I am not certain.

If it were me I'd lower PUFA as low as I can and take thyroid as my first steps. Thyroid can correct things from the top down. Then I'd add progesterone (which he did).

Which progesterone product are you using? Progest-e, orally, would be good. 15mg topically would be significantly less than 15mg orally of progest-e.

Anyway I don't want to confuse things. People are going to say to take all sorts of things and he can't take 100 supplements. You've already talked to people privately so they've probably already said this stuff.

He's using Georgi Dinkov's cortinon which has progesterone and DHEA combined. That really seems to calm him down and level him out. I think the high cortisol puts him on edge constantly.

I think aspirin could be worth looking into and Peat himself recommended he try supplementing thyroid. And yes he's doing that orally. I let him try a little bit of T3 one night and it knocked him out for 10 hours, so I think this was actually a good sign. I suspect it lowered stress hormones that are highly elevated in his case. He's also lowered PUFA significantly in the past year and I think that has greatly improved things. Thank you for your comments.

 

[Ryan999]

Being unable to release muscles sounds like a nerve excitation issue. Increasing cellular respiration should help get the Ca and Na back out of the cell and K and Mg in to restore the cellular potential. His high serum K shows his cytoplasm is no longer structured correctly Gilbert Lings book, “In Search of the Physical Basis of Life” is a great read and explains a lot of this.

If the nerves aren’t working correctly, the muscles aren’t stimulated correctly which will lead to atrophy.

Watch for rhabdomyolysis.

This was exactly my line of thinking when I first started researching this disease about a year ago. It's what made sense to me. I will look into getting a copy of that Gilbert Ling book.

As far as increasing cellular respiration, do you think the typical Peat methods that are well known would be a route to try... like aspirin, thyroid supplementation, niacinamide, low PUFA etc.? And would that decrease in cellular respiration correlate to the nerves not working correctly?

 

[Ryan999]

I would get his genes checked with selfhacked.com.
Around the time of 20-30's there is a progression to deeper neurological dysfunction in MTHFR gene carriers.
I wouldn't rule out a hair Analysis test out of curiosity if you can afford it.
Also he should be working with a neurologist to rule out a brain and spinal lesion. I would assume so to diagnose someone with muscular dystrophy. A cervical disc herniation can present with the same sypmtoms.
As someone else said the high serum potassium is worth looking into more. Potassium wasting can be seen in those taking high vitamin D. Extracellular swelling can impair nerve function. Electrolytes are used in transmission of nerve impulses.
Also there's been a study on boron MD.

Yes he is working with a neurologist. Interesting about the cervical disc herniation though. I will bring that up to him. I will also look into the issue mentioned with high vitamin D. Thank you for posting.

 

[Ryan999]

+1



+1. From experience, in addition to B1, B6, and increase GABA.



This amount of MB feels too much to me when nerves are involved. When I manipulate MB or take too much it gives me numbness (slightly) in extremities. In this thread, the relation of MB to neuropathy has been mentioned

Thank you. I may recommend he lowers his MB dose a bit and see if he sees any positive changes.

 

[Ryan999]

Oxidative stress lowers the mitochondrial membrane potential, chronic inflammation or allergic reaction can heavily contribute to this. There is almost always some degree of insulin resistance contributing to problems with energy management.

Awesome, really interesting. Thank you for that.

 

[gaze]

Yes, it's awesome to see the recovery he's made. It was a little shaky there for a moment. I encourage him to salt to taste with food and we're working on getting him a good calcium supplement because milk is upsetting his stomach at the moment.

Out of curiosity, why milk and salt as two things you think may help him? Are you thinking milk to keep parathyroid hormone low and salt too keep adrenaline low? Is that the correct line of thinking for those recommendations? Thank you for reply btw too.

Yep, his parathyroid hormone could be lower which would help his symptoms, and his TSH is a tad elevated, both of which are lowered by dietary calcium and vitamin D (although his vit D is ok as is, especially since he’s not eating much calcium). also cheese and goat milk are often much easier to digest than milk and provide great amounts of calcium

 

[Ryan999]

Yep, his parathyroid hormone could be lower which would help his symptoms, and his TSH is a tad elevated, both of which are lowered by dietary calcium and vitamin D (although his vit D is ok as is, especially since he’s not eating much calcium). also cheese and goat milk are often much easier to digest than milk and provide great amounts of calcium

Awesome, thanks for the tip on the goat milk and cheese. I will see how he tolerates that.

 

[LA]

Some claim MD is genetic. My father had a distant cousin who was diagnosed with muscular dystrophy although we do not know of anyone else who has it. He was in his 60s when he was diagnosed. I know this is a problem that can bring tears to the eyes of the family members no matter the age. I am very sorry for your news. Has anyone recommended Vit E?

I have two Adele Davis Books where she states that Vit E, d-alpha Tocopherol when started soon enough will help tremendously. Also a few alternative health books contain similar information.

On this forum there is a link to an Adele Davis book: London - George Allen & Unwin Ltd first published in Great Britain in 1961. I cannot recommend it for this purpose. I downloaded the PDF and looked at it. Comparing that edition to what I have on hand I see that the older edition does not sufficiently cover this problem. I hope a few typed quotes from her revised edition will help you find more trials. I never checked PubMed, etc.

"Let's Eat Right To Keep Fit" (revised Edition)
1970 Harcourt and Brace Jovanovich, Inc. New York, USA
Chapter 20, pg 153
Muscular Dystrophy, produced in every type of animal severely deficient in vitamin E, is said to have doubled in the past 10 years. In this disease, muscle cells break down and are replaced by useless scar tissue. If vitamin E is given before the disease becomes advanced, recovery occurs quickly. . . . [snip]

In her books she never recommends any other Vit E except Alpha tocopherol or d-Alpha Tocopherol.

The Linus Pauling Institute Fall/Winter 2004 Research Report
"All about E"
- - - "but we are finding that the body works very hard to exclude forms of vitamin E other than alpha-tocopherol"
pg 3 -
Q & A
"We are currently studying gamma-tocopherol. We found that the body works hard to excrete it, while alpha-tocopherol is retained. Some studies in rats have found that gamma-tocopherol inhibits platelet aggregation, but it isn't clear if this is related to an antioxidant function or something else. "

I stopped getting their reports so I do not have the follow up on their gamma-tocopherol research.

Dr. Peat also recommends Alpha Tocopherol.

I hope your brother improves 100 percent!