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Suggest treatment for advanced McArdle's disease

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Neurologist
Practicing since : 1988
Answered : 1388 Questions
Question
I have advanced McArdle'sDisease no strength in my legs, i fall a lot, 5 times in the last 2 months. I am 78 years old. I have had it for 15+ years.
I also have a grandson who has advanced Chron disease. We both need help bad.
Have you ever treated either of these diseases , if not can you recommend some one who can help?
XXXXXXX XXXX YYYYYYYYY Cell
Posted Tue, 5 Aug 2014 in Crohn's Disease
 
 
Answered by Dr. Dariush Saghafi 5 hours later
Brief Answer:
McArdle's Disease

Detailed Answer:
Good evening to you and I understand you are not feeling well. I hope I can help shed a little light on your problem and that in some measure this may be therapeutic for you. My name is Dr. Saghafi and please take a look at the following for McArdle's Disease which I have experience treating. It would appear from your story that weakness in the legs and falls are your most significant problems (you and all the others who have this unfortunate infirmity). Let's see what we can do with the following information. I'm sure you've done research on this topic so please excuse me if I overlap things you already know.

McArdle's disease is a rare genetically passed on inborn error of metabolism that affects about 1/100,000 persons. The defect in enzyme activity in patients with McArdle's involves an entity called MUSCLE PHOSPHORYLASE which helps convert the stored form of glucose (GLYCOGEN) into usable sugar (GLUCOSE). The conversion problem is pretty much relegated or confined to the muscles of the body only. Essentially, this IS THE ENTIRE DISEASE PROCESS. It's one special enzyme which produces one major activity and is necessary for muscles to function properly as they convert their STORED energy into CHEMICALLY USABLE energy.

Many people over the years have been searching for the perfect diet or activities (or lack thereof) for McArdle's patients because in point of fact there is no simple answer to managing this problem and there is no cure as of 2014. Nutritional supplements remain highly esteemed in this "natural age" we live in but in reality nothing has ever been conclusively shown to work head and shoulders above anything else.

I always give my patients a basic checklist of things to keep in mind. One very important piece of advice is that patients with McArdle's are to take the personal responsibility of letting either anesthetists or surgeons know of their disease. Furthermore, a person with McArdle's show not have tourniquets placed.

And then, there's somewhat of a list I always distribute for patients to keep track of and fill out. Here it is for your consideration in case you haven't looked these things up already.

1. Avoid strenuous exercise. This is one of the few times a doctor is going to tell you that daily or even every other day good solid exercise is BAD FOR YOU....but in fact, that is the case. The more a person exercises beyond reasonable limits the more risk they carry of getting ACUTE KIDNEY FAILURE and that is bad news.
Severe pain in a muscle should signal the END OF THE EXERCISE PERIOD).

2. Light or gentle exercise on an ongoing basis can actually control symptoms of McArdle's very easily. Excess bodily weight is a risk factor for making the condition worse since it lowers people's ability to remain physically fit and in good conditioning shape. This will cause them to have to push their muscles more and fatigue much more equally.

2. Tourniquets and certain anesthesia agents must be avoided during surgery in McArdle's disease.

3. If your urine turns dark or dark red then, you should notify your doctor immediately and drink at least 100% more water than before otherwise, you may go into kidney shutdown. If you stop producing urine then, please contact your doctor immediately or if they are not available, head off to the ER of your closest hospital.

4. High protein diets are not known to improve any quality of life issues in McArdle's patients and are controversial at best as to their efficacy.

5. Some studies have reported that light activities of exercise may respond to low levels of creatine which may help with symptoms of fatigue. Similarly, oral sucrose and a drug called ramipril and TONS of carbohydrates in the diet may be beneficial but nobody knows that just yet. I've used Vitamin B6 in some patients with moderate amounts of success.

You will want to check with your primary doctor as to recommended daily doses of these medications.

I hope this information will at least give you some additional things to discuss with your doctor. If you have other questions for me please feel from to ask otherwise, if I have provided you with information that is helpful to your condition then, I would appreciate it very much if you would kindly CLOSE THIS QUERY on your end.

As far as your son's Crohn's is concerned we are only permitted to treat one patient's problems at a time per question. He will need to submit a separate query. All the very best to you and your son.








Above answer was peer-reviewed by
 
Follow-up: Suggest treatment for advanced McArdle's disease 14 hours later
Thank you for your reply, but i have already searched the net and know what the diease is. I think some doctors are treating this diease sucessully. B6 seems to be one the works somewhat. I have been taking B6 400MG per day for more than 4 months with no success.
I have tryed creatine with no success I will try the oral Sucrose and Ramipril. Do i need a perscription for these 2?
I can't exercise beond walking into th office from the parking lot, my legs are so tired that some times i just want to give up, but i won't.
I also have extream fatigue.
Thanks XXXXXXX XXXXX YYYY
 
 
Answered by Dr. Dariush Saghafi 34 minutes later
Brief Answer:
Ramipril is prescription but not sucrose

Detailed Answer:
Good afternoon sir.

The success of B6 in my patient population has been mixed at best but some feel that it really does help. I have definitely pushed the dose of B6 up in some cases and seen better responses. You may consider checking with your doctor to see if >400mg. per day would be reasonable.

Ramipril is prescription only. Sucrose is not by prescription but do look for it as its own entity and not mixed with some other nutritional supplement. Also, try and investigate the quality of the processing through which it is manufactured and by a company that has a good reputation.

I'm glad you're refusing to give in to the condition. On the other hand (and as I stated in my last response to you) this is one of the FEW conditions where I counsel patients that getting TOO MUCH exercise or PUSHING THEMSELVES beyond their limits or capacity or stamina for exercise is definitely not a good thing and can break down the muscle fibers even further. So if from the parking lot to the office is all you can do then, so be it.

I wish you well. Please feel free to write back or ask other questions and I'll be happy to share what I can.

If you feel that your the information I've provided has helped in some way I'd appreciate feedback on our interaction. I would also appreciate it if you would CLOSE THE QUERY on your side so we can register the question as completed.
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