My husband has autosomal dominant Charcot-Marie-Tooth Syndrome. That means that there is a 50/50 chance any baby we have will have it. We have already discussed it in depth and decided that we don't want to do a genetic test while pregnant (that is when we do decide to start trying for a baby) because the yes/no answer isn't important until later. However I was wondering if there is some sort of test that can be done at a young age -besides a muscle biopsy or the painful electrode tests. I'm honestly just curious about if we have to wait for the first sign of peripheral neuropathy or drop/club foot or if we could do something before that. I'm also curious if anyone knows how much genetic testing costs. We believe his mutation is on chromosome 17, but we're not completely sure.
Additionally I was wondering if anyone could help with his energy levels. He maintains a very healthy low fat, high protein diet and no drugs or alcohol. He takes vitamins, is not overweight, has no vitamin deficiencies or other known medical problems, gets at least 8.5-9 hours of sleep at night and swims laps 3 times a week about 400-500 meters each time. However he gets exhausted very easily out of the water. Our fortnightly shopping trips wear him out to the point of tears. As does two nights in a row of 8 hour or less sleep or walking more than 1 hour/2 miles. He can't physically handle sex more than once or maybe twice a week, if he's not working. It's just so demoralizing to see him so tired all the time and I just wish there was something that could be done for him.
Any thoughts would be welcomed, or at least thanks for letting me vent.
Low fat diets are a cause of low energy levels. High protein diets increase magnesium excretion and can lead to low or deficient magnesium levels. Magnesium is essential for many enzyme reactions involved in energy metabolism.
An excellent book to check out is called "The 150 Most Effective Ways to Boost Your Energy" by Jonny Bowden Ph.D. C.N.S. I hired this out at the library and found it very informative!
The causes of the various types of Charcot-Marie-Tooth Syndrome include:
CMT Type 1A – a duplicated gene on chromosome 17
CMT Type 1B – a genetic defect on chromosome 1
CMT Type 1C – a genetic defect on chromosome 16
CMT Type X-linked – a genetic defect on the X chromosome
CMT Type 2A – a genetic defect on chromosome 1
CMT Type 2B – a genetic defect on chromosome 3
CMT Type 2C – a genetic defect on chromosome 12
CMT Type 2D – a genetic defect on chromosome 7.
The most common cause of Charcot Marie Tooth Syndrome (70 - 80% of cases) is the duplication of a large region in chromosome 17p12 that includes the gene PMP22 (peripheral myelin protein-22). Some mutations affect the gene MFN2 (Mitofusin-2).
DNA testing can give a definitive diagnosis, but not all the genetic markers for Charcot Marie Tooth Syndrome are known. Genetic testing involves taking DNA generally from a swab of saliva or a sample of blood. According to the Human Genetics Society of Australasia (HGSA), there are presently around 220 DNA diagnostic tests available from 44 laboratories across Australia. The cost of genetic testing procedures varies, from less than $100 to more than $1000, depending on various factors. Eg: a single gene mutation is less expensive than high complexity tests such as full gene sequencing.
Thanks for the book recommendation, I'll certainly look at it.
When I say low fat I don't mean excessively low. His maintains about a 7400kj diet and his fats should be around 20% of his kj. But I'm on a low fat gallbladder friendly diet and he eats what I do plus extra nuts, snacks, spreads, and the occasional roast I make specially. Maybe his extra just isn't enough.
I'm pretty sure his Dr. just threw out the number 17, because we know it's not X-linked based off of family pedigree. But (if it is on 17) because it is a duplicate gene can it keep duplicating multiple times? I know there is at least one disease that does that- gets progressively worse with each generation because of extra duplications, but I can't remember which one. Also because it is a duplication, making the chromosome longer, does that mean his chromosome 17 is more likely to pass on other spontaneous mutations or trisomy?
I have CMT Type 1A and agree with what Red Star is saying. I also have 4 sisters with it. There have been studies done showing high dose vit c helps. I wouldnt be without it now. I also take 650mgs of Magnesium daily too, not sure how it helps but it does. My husband and I have 4 happy healthy children, one that i suspect has mild CMT symptoms but we will deal with that as she gets older. The only thing i have found that helps my energy levels is a high protein diet, nuts and vegetable proteins don't seem to work as well as animal proteins. I make sure to have two small serves of meat and 2-3 generous serves of dairy every day, takes some getting used to but its been worth it. The most important rule for me is NO SUGAR, once again i have no idea why this works. Even when i am at my best i need a nap in the afternoon, so im not exhausted by the end of the day, very frustrating, if you find anything else that helps let me know!!!
Thanks FMA! It's nice to hear from someone whose suffering with it too. His energy levels have been ok since I stopped trying to go vegan. I added a lot more kangaroo meat-which has a TON of protein, iron, and B12 but not too much fat so I can eat it. Then he added more nuts and dairy into his daily foods. His mom swears by boiled eggs- she keeps them for her snacks mid morning daily. I'll definitely talk to him about the magnesium.
Honestly the best thing for him is swimming. Both him and his mom, they get into the pool and there is no catching them. Which is remarkable when his mom gets out. She's a frail looking women in her mid 50's and she's completely dependent on her crutches and ankle braces. But in the water, she puts me to shame. My husband swims about 2-3 times a week and while he's exhausted afterwords (might be due to the 20 laps he does), the exercise and muscle use makes a huge difference on his energy. It's painfully obvious when he doesn't go because his energy decreases dramatically.
If I can ask - why no sugar? And is that just artificial sugars? Or no adding sugar to anything? I've noticed that my husband's mood is well less than ideal if he waits too long to eat. His fasting glucose test didn't come back flagged so I've been kind of wondering if it's possible there is something else up, or he just gets whiny easily. But I have no idea where to look. I just make sure he has several snacks a day and ignore mood swings until after he eats.
He has tested positive for Hashimoto's disease and gluten in tolerance, which we think might be attributing to his overall exhaustion. So far he has no symptoms of hypothyroidism (except fatigue) so he's unmediated but carefully watched. Anyway, I would suggest you look into similar energy draining conditions. I mean it could be all to the CMT, but unfortunately some people get a lot of other things piled on too.
Out of curiosity do you experience bad peripheral neuropathy? And if so how do you combat it? It get's pretty cold in the winter time here and his feet can get so cold they almost burn. He usually gets out a hot water bottle if they get bad or maybe put the heater directly on his feet but it only works so well. I just feel so helpless sometimes. Winter drains him of almost all energy and seems to make all his joints stiffer. A 25 year old shouldn't groan when they walk. It's getting to the point where I want to suggest something like acupuncture because I just don't know what else could help him.
Also his feet are well.. special and have a tendency to lean to one side. Most of this was corrected by an ankle brace and me forcing him to get boots. But a lot of that limp and lean is still there and I'm just terrified that he's going to take a nasty tumble. I'm also kind of worried with how he walks as it looks like it puts strain on his hips. Do you know if a lot of people with CMT need hip replacement surgery early? Do you have a similar problem and have you ever seen a podiatrist or physical therapist? Has that ever helped?
Anywho, sorry for the pounding of questions. I just haven't been able to talk to anyone other than his mom who has it. So it's hard to know what's normal.
I too have CMT and my energy levels have always been terrible. Got worse as I age -- similarly sex drive etc. really low. I have an understanding husband but it is demoralising. I tried magnesium -- it helped a very little bit. I have to say -- I'm not sure anything really helps. It is part of the disease. But I've learned to pace myself and not get exhausted. Once I am, it's downhill -- so it is a half hour on -- sit down for 10 minutes -- half hour working/walking -- sit down for 10 minutes -- or lie down. The laps are great -- but this disease is not, repeat not, improved by doing more. Tiredness means, take a short break -- don't push himself. That makes it much worse real fast. It can be a debilitating disease but if managed -- not too bad. I think just acceptance? That's where I am anyway. My daughter has a club foot and my two boys both tire easily but are healthy. I don't think there is any reason to worry or to get genetic testing since this disease can be managed. Good luck!
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