Desperate for advice

[crystaly]

Be grateful if anyone knows anything about McArdele's Disease in adulthood ? Especially what tests , what specialist to see.

My life is severally affected at the moment and I'm quite stressed ot about having no diagnosis at the moment. I'd really appreciate a response off anyone.

[myproblem]

Did you mean: McArdle's Disease?

[myproblem]

I had never heard of this, but I hope these links will help. It seems to be classified as a type of Muscular Dystrophy. I included links to the MDA age, and to emedicine.com - they are usually very comprehensive. I suggest you get in touch with the MDA, and see what you can learn. Good luck.



http://www.whonamedit.com/synd.cfm/2504.html



http://www.mdausa.org/disease/mpd.cfm



http://www.emedicine.com/PED/topic1385.htm



http://www.netdoctor.co.uk/ate/musclesjoints/203231.html



http://www.muscular-dystrophy.org/about_your_condition/mcardles_disease/index.html

[crystaly]

Yes I did mean McArdles. Thank you for responding. basically my problem started two years ago I'm 47 & female. I have severe exercise intolerance. When I first start to walk I walk normally then I develop a bad gait legs stiff, if I sit down and rest I can then walk normally for a few steps before I have problems again. I Tire easily and have bad cramps in my feet especially. I cannot climb stairs at all. I get muscle pain almost everywhere. I,ve tried to remain positive but have been at a low ebb lately. I have no diagnosis despite nerve conduction test, mri brain and lumber puncture all normal 2 yrs ago. I heard McArdles is like this  and will look at the links suggested thank you. If you have any other suggestions I would be eternally grateful. I have always been really active and the quality of my life is impaireddue to my symtoms.  This makes life a bit hard as I am a also full time carer for my husband who has cancer. Please Please any suggestions I would be grateful for. Crystaly

[fcar]

so sorry to hear about your problems.



Have you gone to any neurolgists and have had an MRI  or other testing done including a complete blood work up?

[crystaly]

Hi I do have a neurologist and have had a brain mri, lumber puncture ,nerve conduction test when I first started having problems. I had some blood work done but not sure what . They told me I havent got lupus. or parkinsons, or ms. I still see my neurologist every 6 months now and she has said that she is just waiting for other symptoms as she doesnt know whats wrong.

  I have had any psychological reason for the problems Im having ruled out so thats one thing I suppose but obviously this is a small consulation. I,m just a bit tired of clutching at straws I suppose. I do really appreciate all the responses. Ive had a look at the McArdles link but I don't seem to fit all the criteria on it.

[crystaly]

Hi I do have a neurologist and have had a brain mri, lumber puncture ,nerve conduction test when I first started having problems. I had some blood work done but not sure what . They told me I havent got lupus. or parkinsons, or ms. I still see my neurologist every 6 months now and she has said that she is just waiting for other symptoms as she doesnt know whats wrong.

  I have had any psychological reason for the problems Im having ruled out so thats one thing I suppose but obviously this is a small consulation. I,m just a bit tired of clutching at straws I suppose. I do really appreciate all the responses. Ive had a look at the McArdles link but I don't seem to fit all the criteria on it.

[myproblem]

If you go to the emedicine link i gave you, and scroll down, it will usually give a list of similar diseases that sould be considered when evaluatiog for McArdle's. Maybe this list will give you some clues as to what else to look at.

[cathy192]

Hi Crystal - I have never done this so please bear with me.  My husband has McArdels condition- we prefer to call it this rather than disease and when he tells people he says he has a muscle condition.  He was diagnosed with a biopsy when he was 16 but had it from birth - so he has had problems (as did his parents) from birth.  Things like not being able to drink as much from either bottle or breast because his mouth got too sore - to being forced to run in athletic carnivals because everyone thought he was just lazy.  I am sure you can relate.  He has learnt somewhere that you can increase your endurance at physcial activity by doing it regularly and just being consistent at low level exercise, but he has learnt that diet has nothing to do with it and gets very frustrated because he cannot play with his 2 small boys nearly as long as he would love to.

Does this help??
Cathy

[cathy192]

I forgot to mention that the full name of McArdels disease is Myophosphorolaise Deficiency.  The good news is that it is not life threatening.  You would need to chat to you GP about a muscle specialist (if they exist) in order to get more information if not on the internet.  I have just found quite a bit but you just need to persevere.  You should also order a medic alert braclet because if you were involved in a car accident for example and couldn''t tell the medico's that you have McArdels, certain anaesthetics will kill you so that's really important.

All the best,
C

[MomSuz]

My 27 yr old daughter was diagnosed with Mcardels by a muscle biopsy
in 2004 and went to icu last week with acute renal failure and is now getting dyalisis 3 times a week and it doesn't look good.
Find a doctor who is willing to research and test you for it if you find yourself tired and hurting from exertion that wouldn't cause a heathy person the symptoms.It is worth the test because if you have it you need to be aware and monitor your kidney functions and you may need to modify your lifestyle.My daughter went on ssid at 26,has handicap plates....wasn't supposed to carry/lift over 10 pounds,walk stairs or even wal-mart and has been in and out of the hospital almost every 2-4 weeks for months getting fluids to help flush her kidneys....but still they failed.
Good luck and God Bless.
Suzy

[MomSuz]

Geez....meant to say I know the question is old,but want anyone googling like I was tonight to catch this link and take this disease or the thought of it serious....
Also a few more good links for anyone googling below.This disease is the pits and sometimes hard to find help and info on.And of course close to my heart.
Anyone who thinks they have this or any related muscle disease should definately contact the mda as they do offer help and info and they are a super organization that covers many diseases.
Suz
http://members.aol.com/itsgumby/treatment.html
http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_V