Hi Lindsey,

Thanks for writing--I set your permissions so you can post without
approval (I set things that way for new members as an anti-spam
protection).

I wouldn't want to guess what your diagnosis might be. But usually,
in dysferlin deficiency, patients tend not to have any weakness until
their teens or twenties. There are actually about ten different
types of Limb Girdle type 2 (recessive), and diagnosing which type
someone has can be very tricky.

A few questions that you should discuss with your neurologist:

-What is the reason for thinking the diagnosis is limb-girdle?
-Have any tests for muscle proteins involved in muscular dystrophies
been done in your biopsy?
-What other conditions have been ruled out, and why?

For diagnosing dysferlin deficiency, the only accurate way is to test
the muscle biopsy (or a blood sample) for dysferlin (it should be
absent, or be there in greatly reduced amounts), followed by
sequencing of the gene, to make sure there's a mutation.

It must be very frustrating to have had so much trouble getting a
diagnosis. I wish you success.

Best wishes,
Brad