r/MuscularDystrophy 2h ago

Elevidys one-time gene therapy reaches Turkish boy at BMC

Thumbnail emiratitimes.com
4 Upvotes

An 11-year-old boy from Türkiye is currently in treatment planning for Elevidys, the one-time gene therapy for Duchenne muscular dystrophy, at Burjeel Medical City in Abu Dhabi.

BMC is among the few centres in the UAE authorised to deliver this advanced therapy. The case is being managed by a multidisciplinary team including clinical genetics and cell & gene therapy specialists. The young patient has already tested negative for the relevant antibodies, making him eligible to proceed.

Rare disease care is becoming more reachable.


r/MuscularDystrophy 3h ago

Just got genetic results

3 Upvotes

Oculopharyngeal
muscular dystrophy
Autosomal PABPN1:c.4\\_336CN11J, Heterozygous
Dominant
p.A2\\_A11\\\[11\\\]
snort
Tandem
Repeat
Unknown
Pathogenic

symptoms ongoing 5 years muscle loss all over the body, swallowing issues and drooping eyelids? I feel like i’m 5 year my level of disability is very profound is this normal?


r/MuscularDystrophy 12h ago

Dmd carrier duplication

3 Upvotes

Hello . I am in a lost situation and going through it a lot emotionally and mentally. I’m waiting for my amnio results I got done today . Does anyone have any insight on duplications? I feel like they’re very complex and I just need as much info as possible please


r/MuscularDystrophy 23h ago

selfq Living with OPMD

3 Upvotes

I have been living with OPMD for 26 years. I am a 76 year old male, and there are not many of us living with this challenging condition. I was officially diagnosed via gene mapping.

My progression began with my eyes; specifically ptosis. If you had seen me in my 50s, you would have thought I was blind.

Next, walking became very difficult; the resistance felt like trying to walk through a swimming pool. My first assistive device was a pair of dual forearm crutches.

Shortly after, I had bilateral sling surgery for my eyes, followed by prism glasses because my eyes no longer tracked together. 

However, after three severe falls resulting in a damaged rotator cuff, a shattered hip, and a face plant I had to give up the forearm crutches. I transitioned to using a walker and a wheelchair as my legs continued to weaken, eventually reaching a point where I could only stand and pivot.

After another fall resulted in a broken leg, I learned to use a slide board. Today, I am unable to stand and am fully dependent on a power chair and slide board.

Swallowing had been less of an issue until recently, when being unable to swallow my own saliva finally caught up with me. I was hospitalized with aspiration pneumonia and became so weak that I required a Hoyer lift. 

Fortunately, I have since recovered enough strength to use the slide board again.

Despite these challenges, I still enjoy going to my local senior center and spending time with friends. 

My hope is that future advances in medical research will bring better solutions for others facing this condition.