Resources

Ask The Neurologist

SPS Q&A For Medical Professionals

Drs Jennifer A Tracy and Andrew McKeon of Mayo Clinic, Rochester, Minnesota

Drs Jennifer A. Tracy and Andrew McKeon of Mayo Clinic in Rochester, Minnesota answer questions about Stiff Person Syndrome including:

  • What are the most important symptoms and lab tests to strongly suggest a diagnosis of Stiff Person Syndrome?
  • What is the meaning of the GAD65 antibody? Is a positive GAD65 antibody always abnormal?
  • Are there other lab tests including the other antibody tests that are closely linked with SPS?
  • Is there a genetic component to SPS?
  • What would you like primary care providers and general neurologists to do for a patient suspected of having SPS prior to referral to an expert?
  • What are some of the conditions that can be confused with SPS, causing a delay in diagnosis?
  • How do you approach treatment for a patient newly diagnosed with SPS?
  • What is the recent thinking about stem cell transplants for SPS?
  • Since SPS is a very rare illness, what would you like to see happen to improve our understanding of the disease and develop more effective therapies?

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SPS Questions – A Video Series

Dr. Scott Newsome of the Stiff Person Syndrome Center at Johns Hopkins Medical

Dr. Scott Newsome is a leading expert on Stiff Person Syndrome. He has researched the disease for more than a decade, and established the Stiff Person Syndrome Center at Johns Hopkins Medicine.

Get notified when we publish the next installment of our exclusive interview with Dr. Newsome — subscribe to The Stiff Person Syndrome Research Foundation newsletter here.

What is Stiff Person Syndrome?

DR NEWSOME:  SPS is an autoimmune, neurological condition where, even though we don’t know the primary cause, the immune system gets angry and is misdirected to attack the nervous system in a way that causes signs and symptoms we see in patients: horrific spasms, generalized pain, eye movement issues, problems walking, there’s a full spectrum people can experience with this condition.

When you are dealing with a neurological disease, there’s a lot of overlap, so that early on in SPS, patients can be in chronic pain but have a normal neurological exam. That’s why some physicians incorrectly consider them psychiatrically unwell. It is a really challenging disability, but at the core is the immune system.

SPS is characterized as a rare disease, affecting every 1 to 2 in a million people, most often in middle-aged women, but men and teenagers can have it too. How often does SPS show up in children? 

DR NEWSOME:  Pediatric-onset SPS is extremely uncommon and can present with symptoms that are similar to adult-onset SPS. The diagnosis often doesn’t occur until adulthood because there is a lack of awareness about SPS in general. I encourage pediatric clinicians to become familiar with the typical and atypical symptoms and signs of SPS because it does occur in children and recognizing early may help patients get on a treatment path that can improve their quality of life and mitigate symptoms.

I know of at least one other toddler who was thought to have SPS which is in the literature. I personally have not seen someone this young with SPS but with rare diseases you have to expect the unexpected. People do not always follow text book examples of diseases. The other rare condition that can be mistaken as SPS in such a young age is neuromyotonia.

Ask the Primary Care Physician

After being dismissed by her former primary care physician, a host of specialists, and multiple ER doctors, Tara found her quarterback in Dr. Assil Saleh.

Dr. Saleh listened, recognized there was a serious medical issue, provided a critical referral to a local neurologist who correctly diagnosed Tara, and expedited the process to be seen at The Mayo Clinic and Johns Hopkins for desperately needed treatment.

With so many limits and pressures on medical doctors today, getting to the diagnosis of a rare disease is especially challenging. Here Dr. Saleh describes her playbook to becoming a patient’s quarterback.