Stiff person syndrome, like many rare diseases, does not get nearly the same amount of screen time or name recognition that other, more common diseases do. For many people, Celine Dion’s announcement of her diagnosis with the condition in 2022 marked the first time they had heard of it. This limited awareness surrounding stiff person syndrome marks just one of the many challenges keeping this disease and other rare disorders in the dark. In this episode, we attempt to shed some light on stiff person syndrome, exploring the complex biology, frustrating history, and hopeful future of this disease. Because while the field of stiff person syndrome research faces many hurdles, there are also so many individuals – researchers, patients, advocates – and organizations that fight to bring this and other rare disorders into the light. Tune in today!
Links:
National Organization for Rare Diseases
| History | Biology |
| Asher, Richard. “A woman with the stiff-man syndrome.” British Medical Journal 1.5065 (1958): 265. | Hadavi, S., Noyce, A.J., Leslie, R.D. and Giovannoni, G., 2011. Stiff person syndrome. Practical neurology, 11(5), pp.272-282. |
| Birch, C. Allan. “Stiff-man Syndrome.” British Medical Journal 1.5067 (1958): 395. | Dalakas, M.C., Fujii, M., Li, M., Lutfi, B., Kyhos, J. and McElroy, B., 2001. High-dose intravenous immune globulin for stiff-person syndrome. New England Journal of Medicine, 345(26), pp.1870-1876. |
| Cohen, Louis. “Stiff-man syndrome: two patients treated with diazepam.” JAMA 195.3 (1966): 222-224. | Ciccotto, G., Blaya, M. and Kelley, R.E., 2013. Stiff person syndrome. Neurologic clinics, 31(1), pp.319-328. |
| Dunkle, Mary. “A 30-year retrospective: National Organization for Rare Disorders, the Orphan Drug Act, and the role of rare disease patient advocacy groups.” Orphan Drugs: Research and Reviews (2014): 19-27. | Baizabal-Carvallo, J.F. and Jankovic, J., 2015. Stiff-person syndrome: insights into a complex autoimmune disorder. Journal of Neurology, Neurosurgery & Psychiatry, 86(8), pp.840-848. |
| Gavin, Pamela. “The importance of natural histories for rare diseases.” Expert Opinion on Orphan Drugs 3.8 (2015): 855-857. | Caffrey, D., Finn, C.T., Song, S.M., Burton III, F. and Arsan, C., 2021. Stiff-person syndrome and psychiatric comorbidities: a systematic review. Journal of the Academy of Consultation-Liaison Psychiatry, 62(1), pp.3-13. |
| Gordon, Edward E., Danuta M. Januszko, and Leon Kaufman. “A critical survey of stiff-man syndrome.” The American journal of medicine 42.4 (1967): 582-599. | Doughty, C.T., Schaefer, P.W., Brizzi, K. and Linnoila, J.J., 2024. Case 14-2024: A 30-Year-Old Woman with Back Pain, Leg Stiffness, and Falls. New England Journal of Medicine, 390(18), pp.1712-1719. |
| Heiligman, Robert, and Morris J. Paulson. “The stiff man syndrome: a psychiatric disease?.” The International Journal of Psychiatry in Medicine 7.4 (1977): 363-371. | National Organization for Rare Diseases – https://rarediseases.org/?s=stiff+person |
| Henningsen, P., et al. “Psychological factors in the diagnosis and pathogenesis of stiff-man syndrome.” Neurology 47.1 (1996): 38-42. | Stiff Person Disease Foundation – https://stiffperson.org/ |
| Huyard, Caroline. “How did uncommon disorders become ‘rare diseases’? History of a boundary object.” Sociology of Health & Illness 31.4 (2009): 463-477. | |
| Kempf, Lucas, Jonathan C. Goldsmith, and Robert Temple. “Challenges of developing and conducting clinical trials in rare disorders.” American journal of medical genetics Part A 176.4 (2018): 773-783. | |
| Meinck, Hans‐Michael, and Philip D. Thompson. “Stiff man syndrome and related conditions.” Movement disorders: official journal of the Movement Disorder Society 17.5 (2002): 853-866. | |
| Moersch, F. P. and Woltman, H. W. Progressive fluctuating muscular rigidity and spasm (Stiff-Man Syndrome). Pm. Staff Meet. Mayo C, 31:421, 1956. | |
| Ornsteen, A. M. “Chronic generalized fibromyositis.” Annals of Surgery 101.1 (1935): 237-245. | |
| Price, T. M. L., and E. N. Allott. “The stiff-man syndrome.” British Medical Journal 1.5072 (1958): 682. | |
| Pryde, David C., and Stephen C. Groft. “Definitions, History and Regulatory Framework for Rare Diseases and Orphan Drugs.” (2014). | |
| Schieppati, Arrigo, et al. “Why rare diseases are an important medical and social issue.” The Lancet 371.9629 (2008): 2039-2041. | |
| Termsarasab, Pichet, Thananan Thammongkolchai, and Bashar Katirji. Stiff-Person Syndrome and Related Disorders. Springer International Publishing, 2020. | |
| Sun, Wei, Wei Zheng, and Anton Simeonov. “Drug discovery and development for rare genetic disorders.” American Journal of Medical Genetics Part A 173.9 (2017): 2307-2322. | |
| Trethowan, W. H., J. L. Allsop, and BRIAN TURNER. “The stiff-man syndrome: a report of two further cases.” Archives of Neurology 3.4 (1960): 448-456. | |
| Whalen, R. E., J. J. Combs, W. P. Deiss. ““Stiff-man” syndrome.” American Journal of Medicine. Vol 27, Issue 4 (1959): 678-681 |
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2 thoughts on “Episode 155 Stiff Person Syndrome: A rare disease in the spotlight”
Long time listener here. I am so glad you took on this disease. And deeply appreciate your emphasizing how something new is always believed. We know so little and still don’t believe the patient. My wish for all of medicine is to believe and dig for a diagnosis to rule out a physiological explanation for the patient’s experience. Have to done CFS yet? I couldn’t find it in your episode list. It’s another in this category although not as rare.
Hi! The first time I heard about Stiff Man Syndrome was an essay by Berton Roueche entitled “Case of Mrs Carter” — I know it was published in one of his collections, but I’m not sure which one. Great episode, btw!
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