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She was being treated for osteoporosis but as that was settling down her muscle spasms were getting worse. We had assumed they were related to the osteoporosis

She was being treated for osteoporosis but as that was settling down her muscle spasms were getting worse. We had assumed they were related to the osteoporosis and so hadn't discussed much about them until the bones had 'healed', the endocrinologist wasn't that aware that they were becoming a problem. She started looking into Hyperparathyroidism as a possibly cause. As that was progressing slowly we went privately to see a consultant neurologist; he examined her and looking at things like jaw strength concluded it was metabolic myopathy related to a problem with the muscle cells and phosphate. He said he'd only seen it a couple of times before and it's very rare and not surprising it hadn't been picked up earlier. We're now going in for muscle tests, DNA tests, and all sorts to try and identify what is wrong and how/if it can be fixed. The thought is her osteoporosis was likely caused by the cells leaching nutrients from the bones as they couldn't get them normally, that has been stabilised by traditional Alendronic acid, calcium, and Vit.D.

ivanr 4y ago
Would you mind sharing the details of the consultant? My email is "ivan.ristic" at gmail. Much appreciated.
- Steve44 4y ago
  Email sent.
treeman79 4y ago
Take a glance at Sjogrens.
- Steve44 4y ago
  Thanks you. Yes I think we looked at that but it doesn't seem a good enough fit and also not anything the consultants have brought up.
garganzol 4y ago
>The thought is her osteoporosis was likely caused by the cells leaching nutrients from the bones as they couldn't get them normally This is not how it works. When a cell has a metabolic defect, it is unable to use much of the substrates readily available in the blood stream (glucose, lipids). And of course such a cell cannot "leach" nutrients from the surrounds as its substrate absorption ability is seriously diminished. I suppose there is another process going on. It is an old good inflammation - in this case, an autoimmune reaction of the body to its own metabolically subpar cells. When such a "metabolic" inflammation occurs, it tends to target blood vessels of all sizes, causing the gradual dysfunction of their endothelium. With time, this induces a state similar to disseminated intravascular coagulation, although in a much milder form. This causes chronic problems with blood flow due to micro-clotting, which in turn affects nutrients delivery. This induces foci of tissue hypoxia, furtherly aggravating mitochondrial dysfunction at those areas. The immune system senses that and tries to "fix" it by inducing even more inflammation, but everything this does is causes such foci to spread even further. This is never a static process and it cannot be stopped without medications, causing a gradual quality decline of patient's life through months/years. Sometimes it affects bigger arteries and veins, causing more pronounced defects such as thrombophlebitis. But in any way, bone tissue needs nutrients delivered by the blood flow as well and when it is compromised on either level, bones start to degenerate. You can now see the whole picture of how a mitochondrial disease can induce such a seemingly unrelated condition as osteoporosis. Besides the bones, it can affect any organ in the body, especially those having high demands in energy (ATP), such as nervous system, liver, heart, muscles. Сhances are that your wife may have some other manifestations as well, especially neurological ones. The condition can be managed and even cured if the mitochondrial dysfunction is not caused by a genetic defect. If you are interested in details then let me know and I will provide the framework for a protocol.
- Steve44 4y ago
  That's really interesting thank you very much. I presume my leaching comment was a drastic oversimplification of how the nutrients are processed/diverted and shows my complete lack of knowledge in this field. Looking online we're not seeing any lumpy thrombophlebitis, but there is a possibility marks on the legs are similar to what seems to be referred to as Superficial Thrombophlebitis. I don't recall any of the doctors mentioning that but perhaps that's not something they are too worried about at this stage. > causing a gradual quality decline of patient's life through months/years. She's currently getting noticeably worse over a few weeks, including breathing, and we are doing what we can to expedite the diagnosis and hopeful treatment. > If you are interested in details then let me know and I will provide the framework for a protocol. Yes please, that's very kind and I am interested in trying to understand what's going on within my bounds.

ivanr 4y ago

Would you mind sharing the details of the consultant? My email is "ivan.ristic" at gmail. Much appreciated.

Steve44 4y ago
Email sent.

treeman79 4y ago

Take a glance at Sjogrens.

Steve44 4y ago
Thanks you. Yes I think we looked at that but it doesn't seem a good enough fit and also not anything the consultants have brought up.

garganzol 4y ago

>The thought is her osteoporosis was likely caused by the cells leaching nutrients from the bones as they couldn't get them normally This is not how it works. When a cell has a metabolic defect, it is unable to use much of the substrates readily available in the blood stream (glucose, lipids). And of course such a cell cannot "leach" nutrients from the surrounds as its substrate absorption ability is seriously diminished. I suppose there is another process going on. It is an old good inflammation - in this case, an autoimmune reaction of the body to its own metabolically subpar cells. When such a "metabolic" inflammation occurs, it tends to target blood vessels of all sizes, causing the gradual dysfunction of their endothelium. With time, this induces a state similar to disseminated intravascular coagulation, although in a much milder form. This causes chronic problems with blood flow due to micro-clotting, which in turn affects nutrients delivery. This induces foci of tissue hypoxia, furtherly aggravating mitochondrial dysfunction at those areas. The immune system senses that and tries to "fix" it by inducing even more inflammation, but everything this does is causes such foci to spread even further. This is never a static process and it cannot be stopped without medications, causing a gradual quality decline of patient's life through months/years. Sometimes it affects bigger arteries and veins, causing more pronounced defects such as thrombophlebitis. But in any way, bone tissue needs nutrients delivered by the blood flow as well and when it is compromised on either level, bones start to degenerate. You can now see the whole picture of how a mitochondrial disease can induce such a seemingly unrelated condition as osteoporosis. Besides the bones, it can affect any organ in the body, especially those having high demands in energy (ATP), such as nervous system, liver, heart, muscles. Сhances are that your wife may have some other manifestations as well, especially neurological ones. The condition can be managed and even cured if the mitochondrial dysfunction is not caused by a genetic defect. If you are interested in details then let me know and I will provide the framework for a protocol.

Steve44 4y ago
That's really interesting thank you very much. I presume my leaching comment was a drastic oversimplification of how the nutrients are processed/diverted and shows my complete lack of knowledge in this field. Looking online we're not seeing any lumpy thrombophlebitis, but there is a possibility marks on the legs are similar to what seems to be referred to as Superficial Thrombophlebitis. I don't recall any of the doctors mentioning that but perhaps that's not something they are too worried about at this stage. > causing a gradual quality decline of patient's life through months/years. She's currently getting noticeably worse over a few weeks, including breathing, and we are doing what we can to expedite the diagnosis and hopeful treatment. > If you are interested in details then let me know and I will provide the framework for a protocol. Yes please, that's very kind and I am interested in trying to understand what's going on within my bounds.