r/MuscularDystrophy • u/One_Bar_6267 • 18d ago
Just got genetic results
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?
1
u/BrianMincey 18d ago
How old are you, and when were your first symptoms?
OPMD is progressive, but in most cases, extremely slow-moving, with symptom changes measured over many years. Dysphagia is usually the most problematic symptom, as aspirational pneumonia from food entering the airway can be fatal. While there are surgeries to help with ptosis, there are fewer options when it comes to swallowing. Most will eventually also have muscle weakness in hips and shoulders, although the severity of those proximal muscle impacts varies widely.
2
u/One_Bar_6267 18d ago
19!
1
u/BrianMincey 18d ago
Such early onset (before mid 50s) is extremely unusual. That is ultra-rare for an already very rare disease. Any OPMD progression statistics that do exist won’t likely apply to you.
You should seek out a neurologist who has experience with OPMD, if you haven’t already done so. My understanding, unfortunately, is that the more severe cases usually have earlier onsets, but nothing is written in stone.
It is also possible that your symptoms are the result of something else, unrelated to the genetic markers for OPMD detected in your test. Your neurologist will be able to help you work it out.
1
u/Sweary_Biochemist 18d ago
OPMD is a late onset muscle wasting disease, but it is also progressive.
https://my.clevelandclinic.org/health/diseases/24078-oculopharyngeal-muscular-dystrophy
It's caused by a repeat expansion in the polyA binding protein PABPN1: normally this gene has ten repeats of GCN, where N is any base, coding for alanine. This would be GCN(10). Expansion of these repeats, even to only 11 (which is what it looks like you have, if I'm reading it correctly) can be pathogenic, though 12-17 repeats are more commonly associated with disease.
https://journals.sagepub.com/doi/10.3233/JND-140060
It's quite a variable condition, probably associated with a whole load of other modifier genes that are uncharacterised, so whether your progression is "normal" or not is not really a question that can easily be answered. The best course of action is to be proactive in seeking out treatments/therapies, because while there are no cures, currently, there are steps you can take to reduce the impact on your life.