Greetings all.
After more numerous Dr. appts than I can count, I recently was evaluated by genetics and demanded to be tested for CMS. Much to my surprise, the doc agreed to test for only one mutation. I had a choice betw. Colq and Dok7 and chose the Dok7. The doctor felt it was not a possibile diagnosis she would consider since I believe my mother was affected and dok7 is recessive. However, I mentioned that my dad also had a unilateral pstosis, so if BOTH or my parents were affected wouldn't it be possible for me to be? But she would not buy it.

My symptoms: Always have been weak and unable to play sports or participate in physical activities but it really didn't interfere with my daily life and I became quite good at making excuses for not participating in PE in school. However, the weakness seems to have progressed in my 20's and during each of my pregnancies ( I couldn't roll over in bed, get out of the car without assistance or get up if I was sitting on the floor). My doc felt it was just my hips spreading getting ready for birth and that seemed logical to me. I have had a few surgeries and noticed that after each surgery I would do fine, but a day or two later feel extremely down as if I was in a fog and my legs were encased in concrete. I could barely move. My last surgery in 05 I notice my neck was incredibly weak and causing horrible neck pain. I was positive that I must've been dropped or my neck wrenched during transfer from the gurney to or table. Then I had an episode where my movements became jerky, my neck was bobbing. I was evaluated by neurology who could find nothing wrong. After many months, my neck improved and then I started having probs with my legs. I couldn't raise up from sitting on the toilet, climbing or descending stairs were a nightmare. I also noticed that when my weakness was most severe, my unilateral ptosis was worse. I asked to worked up for autoimmune myasthenia gravis. My ice test was positive but my labs were negative. The request for an anti-musk was denied by my hmo. My doc felt that I could have negative labs but still have mg so she started a trial of mestinon which I was positive would help, but in fact made me worse. After doing a lot of research, including reading this board, CMS seemed like more of possibility. I obtained some albuterol and ordered some primatene tablets (ephedrine) on ebay. I noticed a difference right away. I emailed my doc and asked if since the mestinon didn't work if we could try albuterol and she said no, instead referred me to another neuro. When I saw that doc, she flat out told me that she has been practicing for 30 years and never heard of albuterol being used for cms. She almost scoffed in my face. She asked me where I heard about albuterol and I cited Dr. Engel at Mayo and her demeaner changed. I didn't have any of his papers with me so I mailed them to her. When I did not hear back, I contacted her she apologized and told me she actually contacted Dr. Engel and was going to refer me to a neuromuscular doc. I had my visit with him and he says he does not think it is cms because i reached normal milestones as a baby but he would refer me to genetics before even considering prescribing albuterol. The genetics doc feels it is not cms because my mother seemed to be affected. So that is where I am at. Just waiting for the dok7 test results. Now I'm wondering if I should have insisted on Colq also? Can anyone tell me what the difference is? Is there a different clinical presentation?

me: 46 y.o. female, seronegative, unilateral ptosis, weakness and easily fatigability since childhood, weak arms, legs, neck, trapezius, normal milestones, poor balance, heat intolerance, odor intolerance, symptoms seem to get worse when I am/was pregnant, after surgery, hot or tired, or when I am in the garden section at stores, using round-up weed killer, weed-b-gone, smell bicycle or auto tires, milk of magnesia, and the day after getting my hair done( used to think it was the heat of the dryer or having my neck in the rinse bowl but now think it may be due to the coloring). I'm sure I am affected mildly compared to a lot of folks, but my symptoms seem to be progressing with age.