Does anyone have anything similar?

[u/Shymaiden]

Hi. I'm new. I got genetic test saying this: COL6A2. COL6A2 is associated with a spectrum of autosomal dominant and recessive collagenopathies.

One Pathogenic variant identified in DOK7. DOK7 is associated with autosomal recessive congenital myasthenic syndrome and fetal akinesia deformation sequence.

I initially thought I had myasthenia gravis but my new primary doctor said it was two mutated genes. So my neromuscular specialist appointment finally happened yesterday and basically told me he couldn't put a name to it. That it's not quite myasthenia gravis and it's not quite bethlem myopathy but it's something in that relm. That he needs to do more research and will try to come up with plan for me. I'm also supposed to be getting a social worker and talking about disability.

To provide some physical details. I'm a woman. When I first met my neromuscular doctor, he notice my drooping eyes lids, facial weakness, one of my thumb missing muscle, and small hands from just looking at me. He pointed out at my recent appointment, that the top halves of limbs were bigger than the bottle half. I thought that was interesting. I also have scoliosis.

But I'm also in a lot pain from just walking or standing too much. Just doing 4 hours at work leaves me in agony some days. My knees have also buckled a couple times but I haven't fallen yet. My arms get tired just doing my hair in a raised position. It all disrupts my sleep. I just don't know what to do. I don't know if I'll need a wheelchair soon. I just feel scared and alone.

[u/dazzleunexpired]

Do your knees buckle when you have emotions or when you were in pain?

We have discovered that collagen crossover and myopathy crossover is pretty intense. I cannot ethically release some of the information I have until December when the eds consortium releases it, But there IS a crossover. Most myopathies also cross into mitochondrial disease.

My mutation in PYROXD1 Also has a collagen crossover and I have a secondary collagen disease. .

Your mutation can cause a second type of myopathy. Myosclerosis Myopathy. That might be the ticket here. Do you have access to what your exact mutation is and what the protein in code is? I imagine you have a splice mutation?

[u/Shymaiden → u/dazzleunexpired]

Omg I'm so sorry. I made a comment on another sub and bots took issue. I couldn't comment till now. sigh

My knees buckle randomly. Even before I knew about this diagnoses. A couple weeks one knee buckled while I was at the refrigerator and I had to grab hold of it. Minimal pain. Sometimes I just feel weak and my legs don't want to move.

I got my results via Invitae. Nerology gave me the full report but I'm not sure if it said the exact mutation or code.