Mods - Please note that I already have a diagnosis so I'm posting these images for educational purposes.
Edit: Link to imaging is here
I've always had pretty atrocious foot pain and bilateral hip dysplasia, but the hip orthos I saw never took the foot pain seriously and only focused on the hips.
A few years back, I was in PT recovering from hip surgery (periacetabular + femoral osteotomies) when a PT said, "You know, I think there might be more problems with your feet than the doctors have noticed."
To make a long story short, this led to me seeing a number of DPMs and spending countless hours doing research on PubMed. I ended up correctly diagnosing myself with E76. 219 aka MPS IVA which was confirmed via bloodwork and my mutations were discovered via genetic sequencing. I was previously misdiagnosed with MED and then SEDc. For frame of reference, Danny DeVito and Robert Reich both have MED and the actor Warwick Davis has SEDc.
Some other info: I actually have attenuated MPS IVA which make up ~20% of all cases and the disorder affects maybe ~4,000 people globally. I'm 157cm tall and my problems are namely musculoskeletal while those with the severe phenotype are (generally) 129cm and shorter with a whole host of other problems that I'm fortunate to not have to worry about.
The solution to my foot/ankle pain are a pair of AFOs which have cut my pain down to just about zero. The DPMs and foot/ankle orthos said that they couldn't even perform a pantalar arthrodesis because I don't have enough bone material to work with. It's my understanding that this procedure is generally regarded as the last-ditch effort.
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source https://www.reddit.com/r/Radiology/comments/j0cevd/he_has_difficulty_with_pain_in_his_foot_and_ankle/
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