Re: Achalasia/ Mito Disease Article

[Guest guest]

I found this article really interesting. Achalasia, or achalasia type symptoms

are very common in mitochondrial patients, but I think it's usually considered a

secondary form of achalasia. The siblings in this article have idiopathic

achalasia.

From the Journal of Pediatric Gastroenterology and Nutrition:Volume 40(4)April

2005pp 512-517

" In conclusion, we report a novel disorder with multiple mtDNA deletions but

without defined molecular basis manifesting both achalasia and widespread

neurologic abnormalities. The implications of this report are twofold: 1) The

diagnostic possibility of a mitochondrial disorder should be pursued

aggressively when achalasia accompanies generalized autonomic or somatic nervous

system dysfunction; and 2) further understanding of the molecular abnormality

underlying this disorder of esophageal and autonomic dysfunction may provide

insight into the pathogenesis of both achalasia and autonomic dysfunction in

general. "

http://www.jpgn.org/pt/re/jpgn/fulltext.00005176-200504000-00021.htm;jsessionid=\

HJdTgVZxdQrHCfWVvBc6mhCBYMGLm1NVRnWJWPfTyYdtTZGdWx81!-656639706!181195629!8091!-\

1

Thank you notan,

I searched both ways with not much success. I also searched for specific mitochondrial diseases, i.e., L CHAD and MCAD for which there were some contraindications listed, but not much. It may be that there is just still too little known about the diseases but also there are so many different types of mito disease. They are still trying to figure out what type has, and possibly we will never know, but in general we know what diet is good for him and that he needs L Carnitine & CoQ10, and we now know that when he has a fever or infection, he shouldn't have any immunizations as this is what caused the liver failure a few months past.

They are in the process of hopefully ruling out mtDNA Depletion Syndrome which is inherited from the mothers side. So even if the results are negative and we never find out what is wrong (because insurance doesn't want to pay for the testing), at least we have ruled out the worst case scenario, but the more knowledge we have, the better for .

Sandi

-------------- Original message ----------------------

From: notan ostrich <notan_ostrich>

Sandi wrote:

.... it is not ok for patients with mitochondrial disease ...

Hi, Sandi.

You can Google for "mitochondrial" with "contraindicated" and this will

give you a hits on things that may be contraindicated by a

mitochondrial diseases. Another good thing to do is Google the name of

any medication you are given and "contraindicated" to see what

conditions are to be avoided with that medication. As an example of

what can be done, searching for "achalasia contraindicated" will inform

you that Anticholinergics, Bisphosphonates, Alendronate, Fosamax, Flavoxate,

Norgesic, Robinul Injection, Biperiden, Donnatal, Urelle Oral, Stretta

procedure, scuba diving, and more are contraindicated for patients with

achalasia.

notan