Could you run a marathon with chronic pain and muscle spasms? What is Stiff Person Syndrome? Does Amphiphysin play a role in its cause?
As a keen runner, I’ve often cursed my dodgy right knee for causing not only physical pain, but mental agony and frustration at not being able to run as fast or as far as I want, or at all sometimes! I take my pain medication and endure the daily R.I.C.E routine and wait for it to subside again so I can get out and start pounding the pavements… until the next time! I am fun runner and painful running is just not fun! Imagining running with chronic pain is an alien concept to me. So when I recently I stumbled upon a story about a lady who suffers from a rare incurable disease that leaves her body in a constant state of intense pain who had run a marathon, I was intrigued. Imagining the courage and sheer determination it took to overcome that pain to complete a marathon is inspirational for any runner. The lady in question, Ms. Michele Caples of Missouri suffers from the rare acquired neurological disorder Stiff person syndrome or SPS (also known as Moersch-Woltman Disease).
Affecting just 1 person in 1,000,000, Stiff person syndrome, as its name suggests, is characterized by progressive muscle stiffness (rigidity) and repeated episodes of painful muscle spasms. Spasms may occur randomly or be triggered by a variety of different events including a sudden noise or light physical contact. The severity and progression of SPS varies from one person to another and if left untreated, SPS can potentially progress to cause difficulty walking and significantly impact a person's ability to perform routine, daily tasks.
Ms. Caples was diagnosed with SPS in 2013, after years of pain, stiffness, and spasms, and lots of misdiagnoses. She had been morbidly obese which doctors suggested was why her symptoms were kept at bay and underwent a gastric bypass in 2012. Michele took up running after reading how a Tasmanian man, Shane James, found relief from SPS through running. Enduring years of intense pain, having three titanium plates put into her sacroiliac joints, an ankle rebuild, titanium put into her hip, a collapsed lung… the list goes on, she gradually built up her distance. She completed the marathon in 4 hours 27 minutes, a time I myself as a fairly healthy (excusing my rickety knee!) young woman would be immensely proud of. Ms. Caples believes she is currently the only female marathon runner in the world with SPS, and despite the way running helps her control the worst aspects of her disease, she admits it is still isn’t easy.
Although the exact cause of SPS is unknown, it is believed to be an autoimmune disorder and sometimes occurs along with other autoimmune disorders. The most common associated condition is diabetes. Less commonly, affected individuals may also develop inflammation of the thyroid (thyroiditis), pernicious anemia and vitiligo. GAD is also a major autoantigen in Insulin-dependant diabetes mellitus (IDDM), which is often associated with SPS. Approximately 70% of SPS patients with high-titer GAD antibody also have antibodies against a synaptic protein, GABA-receptor-associated protein (GABARAP), that is involved in the endocytosis, recycling and maintenance of synaptic vesicles and receptors [1]. In addition, recent studies have shown that antibodies against Amphiphysin (AMPH) are detected in patients with SPS and a subset of patients with SPS who were also affected by breast cancer are positive for autoantibodies against this protein [2, 3].
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References:
[1] Autoimmunity to GABAA-receptor-associated protein in stiff-person syndrome. Raju R1, Rakocevic G, Chen Z, Hoehn G, Semino-Mora C, Shi W, Olsen R, Dalakas. Brain. 2006 Dec;129(Pt 12):3270-6. Epub 2006 Sep 19MC
[2] Stiff-person syndrome with amphiphysin antibodies. Distinctive features of a rare disease. Beth B. Murinson, MS, MD, PhD and Joseph B. Guarnaccia, MD. Neurology. 2008 Dec 9; 71(24): 1955–1958
[3] Autoimmune stiff person syndrome and related myelopathies: understanding of electrophysiological and immunological processes. Goran Rakocevic, MD and Mary Kay Floeter, MD PhD. Muscle Nerve. 2012 May; 45(5): 623–634.
Find out more about the disease at http://rarediseases.org/rare-diseases/stiff-person-syndrome/
Read Michele’s full story at http://dailyjournalonline.com/news/local/local-runner-finishes-marathon-despite-pain/article_a3f94133-b14f-56dc-b495-2de81f4234ab.html