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Stickler Syndrome, Looking for Anabolic Support for Rehab


#1

Hey guys, new here.

I have stickler syndrome, which is pretty similar to ehler-danlos in which my joints are pretty lax. I have joint hypermobility/laxness which has caused me trouble in my neck, shoulders and hips.

Basically, the laxness caused to me to have a forward head, rounded shoulders and lordotic back posture all through my teenage and early adult years (27 now). As a result of this there is compensatory hypertrophy (delts, quads, gastrocnemius) and weakness and atrophy due to misuse (truncal muscles, triceps, cervical flexors, adductors). As a result, my gait is messed up and I am also in chronic pain doing daily things like walking, sitting etc. I have early signs of spondylosis in my neck and lower back which is probably due to the above. The atrophy is quite bad (especially my adductors, truncal muscles and triceps) that they initially thought there was some sort of dystrophic process or myopathy. Thankfully that wasn’t the case.

Anyway, my goals are to change my muscle usage pattern through strengthening the weakened muscles, as well as provide long term stability of my joints. I think that is pretty straightforward in terms of a rehab program but I am looking to take things to another level and end my suffering ASAP,

Is there a particular anabolic substance you guys would recommend? I am looking for long lasting strength gains primarily for a solid base before I embark on long term maintenance naturally. My only concern would be my heart - I have mitral valve regurgitation and my elective surgery would probably be a year away.


#2

If you don’t mind me asking, have you had significant eye issues related to your condition? Stickler syndrome is associated with a condition called hereditary hyaloideoretinopathy with optically empty vitreous. In fact, as you probably know, Stickler syndrome is also known as progressive hereditary arthro-ophthalmopathy, Marfanoid variety. I’m an ophthalmologist, but have only seen one Stickler syndrome pt in my career, so I m very curious about your experience. My apologies in advance if you feel this line of questioning is intrusive.

I am not an anabolics user, so do not have any information pertinent to your question.


#3

I don’t know about having the empty vitreous, but I do have pretty bad floaters. I’m actually going back this week to get it checked again, my diagnosis was pretty recent (via COL2A1 gene).

I do however have a history of young onset myopia (12 diopters), strabismus and amblyopia and I am currently being seen as a pre-glacoumic patient. A lot of abnormal findings over the years, but the ophthalmologists didn’t think it was anything too serious or related to my other non-eye complaints.

Is this something that is glaringly obvious on a slit lamp examination?


#4

Yeah, high myopia, glaucoma and strabismus are all commonly associated, as are vitreous veils (hence your floaters). Also, a common retinal change in Stickler’s (radial lattice degeneration) can be extensive, and predispose to retinal detachment (RD is a possibility, not an inevitability).

All of this is obvious at the slit lamp, so as long as you’re faithful in keeping up with your eye appointments, your ophtho should be able to detect anything going off the rails. Thanks for sharing this aspect of your story.


#5

I’m quite bitter they didn’t connect the dots and suspected some sort of connective tissue disorder when I was much much younger.

A little off topic here, but I think I have been unconciously coping with my amblyopia badly all these years. My visuospatial awareness is quite poor (frequently knocking over objects on a table, getting disorientated and having poor depth perception during team field sports) and I struggle with reading for long periods of time. What kind of therapy should I be looking at and is this still fixable as an adult? Functional ophthalmology?

Also, I have excessive frontalis overaction which I think is due to excessive brow/lid skin partially covering my eyes. Is this a common thing and what can I do about it? getting nasty headaches from that.


#6

Do you have Pierre-Robin sequence as well? (Also associated with Stickler’s).


#7

The amblyopia probably stems from a combination of the extreme myopia plus strabismus. Do you have one eye that sees much better than the fellow eye? Also, have you had strabismus surgery, and if so, how successful has it been (ie, are your eyes reasonably aligned with one another)?


#8

It was bad as a child, but they determined I outgrew it with age. They look normal in pictures now and examination, but I am pretty sure they drift without me noticing since people have made comments. My parents opted out of surgery so I went through all the training and patches. My left eye is about 1 diopters more then my right. Is Binocular training legit? I feel even with both eyes corrected to 20/20 I still get strain and wandering.

Classic stickler facial appearance but no Pierre Robin sequence.


#9

How do you deal with the high myopia? Glasses and/or contacts, or have you had some sort of refractive surgery?


#10

Glasses and contacts. Mainly the former


#11

High myopia necessitates very powerful spectacle lenses. Inevitably, these high-powered lenses produce distortions in the retinal image, especially with regard to its peripheral aspects. (The most notorious is barrel distortion; other forms of distortion are present as well.) For some people with a history of amblyopia, it is the peripheral aspects of their visual field that allow the eyes to ‘fuse’ and point in the same direction. Thus, anything that distorts the peripheral visual field (like high-powered spectacle lenses) can interfere with fusion, leading to one of the eyes drifting out of alignment. To the extent this is the case, contact lenses cause far fewer such distortions, and thus may be preferable. (Although some people are CL intolerant, and others have such a high refractive error that the CLs have a tendency to pop off the front of their eyes.)

It is also the case that some people simply have a tendency for one eye to drift out; this is called intermittent exotropia.