Blood Tests For Mitho - Following done / What next

[Guest guest]

Most people agree that the best way to diagnose mito is with the muscle biopsy. Even that is no guarantee that anything will show up. With our daughter the muscle biopsy did, without question, confirm mito but we will never have a specific name to her type. Unfortunately there is just not enough out there yet for the doctors to look back on.

My advice is to try to find someway to get the muscle biopsy paid for. If you get ahold of the Muscular Dystrophy Association they will pay for this. I would imagine they still will help even if you are outside the US, but I think you would need to travel to the US to use there clinics. The website is www.mdausa.org. It can't hurt to check them out. They have helped us out with things insurance won't pay for.

Best wishes.

[Guest guest]

Connor was tested for the following Mitho mutations:

MERRF A8344G mutation

MELAS A8344G mutation

MELAS T3271C mutation

NARP T8993G mutation

LEIGH T8993G Mutation

LEIGH T9176C Mutation

All tests came back negative:

He has a presumed mitochondrial encephalopathy disorder with the

following:

Basal Ganglia abnormalities and atrophy - movement disorders &

delays (no seizures), Hypotonia, large head, short limbs, hearing &

eye problems

My question is, is this a comprehensive list of the number of tests

that could have been done with blood for those symptoms. Are there

more or should we move on to the next step, which I believe is a

skin biopsy and failing that a muscle biopsy. Bear in mind that all

blood tests etc are paid out of out pocket and are expensive.