← Return to Camptocormia (bent spine syndrome or BSS): Looking for others

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Hello @porthole, Welcome to Mayo Clinic Connect. Thank you for sharing this information. I found the link and thought I would post it for you. I think I also have this condition and was planning to discuss it with my primary care doctor at Mayo this Spring when my annual physical comes up.

Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review -- https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-015-0380-7

I also found another article on the topic at the National Organization for Rare Disorders.
Riboflavin Transporter Deficiency -- https://rarediseases.org/rare-diseases/riboflavin-transporter-deficiency/

Can you get a referral from your regular doctor to a specialist?

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Replies to "Hello @porthole, Welcome to Mayo Clinic Connect. Thank you for sharing this information. I found the..."

Thank you John for posting that article, I am a woman who started getting symptoms about 13 years ago in my early 30s, while my back wasn't the worst symptom of what I now know to be a Mitochondrial Myopathy and M.A.D.D., where when I was extremely ill manifested by my having to hold my head up, so it was a very interesting article as my diagnosis are both rare diseases. My M.A.D.D. is affecting my short, medium and long chain fatty acids (it's normally just the one so to have all three must mean I am very special - my slightly sarcastic way of dealing with this, I am in Ireland, so rare is even rarer with a population that doesn't hit 5 million), so thank you for that insightful article.