Living with OPMD

How Were you Diagnosed

TJ
14 posts
January 5, 2015 4:00 PM MST

Just Curious as to how you were diagnosed and how long it took before you were Diagnosed. Did they use the Brais criterian and confirm with the PABPN1 gene testing?

MD
4 posts

January 29, 2015 12:54 AM MST

I was diagnosed in 2007, through the MDA (locally) who sent my bloodwork off for genetic testing. It was four long weeks and my doctor called by phone and told me i had the disease. Later, I would go to the MDA clinic every year for many years. The gene testing confirmed the illness.

Jersey Girl
65 posts
January 29, 2015 6:49 AM MST

I was diagnosed in 2005, though it was readily apparent that I had OPMD having inherited it from my mother.

Megga
4 posts
October 2, 2015 12:07 AM MDT

I knew a bit about the condition, i realized i might be blessed with this delightful condition when i went for an eye test, they kept saying “you need to open your eyes wider” went to GP who refered me to the hospital, 3 months later i was diagnosed.

I am having trouble getting diagnosed, so not sure if have illness. I’ve been back and forward to doctors with a cough. I’ve always said I cough to clear my throat as feels as if it’s tightening. They continue to send me for chest x.rays. I looked to see if there was anything genetic as my mum had same symptoms, difficulty swallowing and joint/muscle pain. She got so bad she could not move and stopped eating as it was too sore and had to be taken to hospital they fed her through a pipe, but she died soon after of malnutrition. When I mentioned to Dr I was told never heard of it. Got refered to ENT. Found had 9 week wait so thought I’m going back as now starting to choke when eating and pain in upper leg is getting unbearable and with other aches n pains. This one laughed about googling. Felt like saying we’ll you are getting nowhere. Got the ENT appointment moved forward to next week. Any advice on what to do/say to try and ensure I at least get a blood test done[quote=“ModSupport, post:1, topic:29, full:true”]
TJ
14 posts
January 5, 2015 4:00 PM MST

Just Curious as to how you were diagnosed and how long it took before you were Diagnosed. Did they use the Brais criterian and confirm with the PABPN1 gene testing?

MD
4 posts

January 29, 2015 12:54 AM MST

I was diagnosed in 2007, through the MDA (locally) who sent my bloodwork off for genetic testing. It was four long weeks and my doctor called by phone and told me i had the disease. Later, I would go to the MDA clinic every year for many years. The gene testing confirmed the illness.

Jersey Girl
65 posts
January 29, 2015 6:49 AM MST

I was diagnosed in 2005, though it was readily apparent that I had OPMD having inherited it from my mother.

Megga
4 posts
October 2, 2015 12:07 AM MDT

I knew a bit about the condition, i realized i might be blessed with this delightful condition when i went for an eye test, they kept saying “you need to open your eyes wider” went to GP who refered me to the hospital, 3 months later i was diagnosed.
[/quote]

It was a nightmare because he is adopted, but eventually a blood test was the Diagnostic method. EMG and muscle biopsy were inconclusive, had initial mis-diagnosis of LGMD. B

Yes, a genetic test was conducted for PABN1. It was simple, so simple. My Alleles were off the chart. After all the other tests it boiled down to a doctor administered genetic test kit.

Took 4 years before I was diagnosed. I knew I was in trouble in 2002 when I had difficulty walking home. It felt like trying to walk in a swimming pool. At the time I was living in a hilly area. I have had swallowing issues since I was a boy. The following morning I had double vision. This lead my doctor to refer me to a neurologist. During the four years with him I had: radiology swallowing test, muscle biopsy, plasmapheresis, a thymectomy, IVIG, and chemo once a month for six months. Finally I was referred to UCLA Research in 2006 where I had the gene mapping done and was officially diagnosed with OPMD. Currently I have ptosis crutches for my eyes and walk with dual forearm crutches. I require a BiPap machine at night. I go to my local MDA Clinic every six months.

Hi, brand new to this site. I was misdiagnosed with MG. Finally had genetic testing and it showed OPMD. Eyelids droop, trouble swallowing and most recently extreme leg weakness. The leg weakness is of great concern. Not sure if this is here to stay or comes and goes like a flare up.

For me, leg and arm weakness is definitely progressive. I have a walker and dual forearm crutches. I primarily use the crutches for better mobility. But I find I can walk less as time goes on. Just this past week I got a wheelchair for longer outings. I visit the Muscular Dystrophy Clinic every six months where continued weakness is tracked.

I too went to ophthalmic appointment he said do you have OPMD as you have the look of it? I said what is the look? He said it’s in the eyes. Well I was referred to genetics lab and they confirmed i was positive for it allele 13