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A designer disease . . .

Posted by JoshT (A) on June 22, 2016 at 08:06:20

In Reply to: RE: It's been awhile gentlemen . . . posted by FenderLover on June 21, 2016 at 21:02:40:

Hey FenderLover,

I'm fine with discussing what I have.

It's a very rare form of adult-onset muscular dystrophy that is biologically referred to as "dysferlin deficiency" or "dysferlnopathy" because it is caused by the absence or deficiency of the protein by that name. The encoding gene is referred to as DYSF, and in order to get the disease you need a mutation in both copies of that gene. So, it is autosomal recessive meaning you can be a carrier without having the disease because a single normal copy of the DYSF gene will produce enough of the dysferlin protein to maintain muscle cell integrity and repair. Disease linked mutations are so rare that there is no history of this in my family, though of course my parents are both carriers. My brother is a carrier too, but healthy as an Ox. There are only a few hundred genetically confirmed patients in the U.S., though we know there are many who have remained undiagnosed or misdiagnosed. A lot of patients I know, for examples, were misdiagnosed for years with polymyositis and put on prednisone, which further kicked their ass. I was lucky in that regard.

Oddly, the disease presents in one of two ways initially. One phenotype is called Miyoshi Myopathy, which starts distally in the lower legs. The other is called Limb Girdle Type 2B and presents proximally, in the limb girdle, initially. I was diagnosed with Miyoshi Myopathy when I was 22 and before the DYSF gene was discovered. (Until the DYSF gene was discovered in the late 1990s, the assumption was that this disease was actually two forms of unrelated MD.)

For me, it has progressed very linearly, and slowly, since my diagnosis. Others progress even slower, or quite a bit faster.

The silver lining is that, unlike other MDs, such as Duchenne, Miyoshi/LGMD2B does not result in cardiomyopathy, so one can expect a normal life span with it so long as he otherwise takes care of himself.

So, in a large nutshell, that's what I got! TMI? ;-)
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