The symptoms: The woman went to the hospital because she could not bend her legs, walk or sit up. She also had chronic lower-back pain, recurring episodes of fever and chills, and unexplained weight loss of more than 30 pounds (14 kilograms).
Over time, increased rigidity in her right leg began affecting her balance and caused frequent falls. Doctors prescribed her ibuprofen and physical therapy, but the stiffness and pain continued.
Nevertheless, over the next month, her symptoms steadily worsened until she couldn't get out of bed; she was also unable to sit up or turn to either side.
The diagnosis: Based on her earlier test results and her past and current symptoms, the doctors suspected that the woman had developed an extremely rare autoimmune neurological disorder: stiff person syndrome (SPS).
A clue from the woman's blood tests hinted at this condition. Doctors found high levels of antibodies that block the enzyme glutamic acid decarboxylase (GAD). Elevated levels of these antibodies are seen in up to 80% of people with SPS. The anti-GAD antibodies prevent the enzyme from producing a chemical messenger called GABA, which acts like a brake on nerve cell activity. Without enough GABA, the nerve cells that control how muscles move can go into overdrive, which can cause spasms and prevent muscles from relaxing as they normally would.
Tests revealed antibodies (pictured) in the woman's blood that block the production of a key chemical messenger in the body. (Image credit: KATERYNA KON/SCIENCE PHOTO LIBRARY via Getty Images)In addition, her doctors prescribed the steroid prednisone, the anticonvulsant gabapentin and the sedative diazepam, along with a regimen of physical therapy to help relax the woman's spasming muscles.
At a three-month checkup after being discharged, the patient could stand unassisted and walk using a rolling walker. The doctors started reducing her steroid dose, but she continued taking diazepam and gabapentin as prescribed, along with a monthly dose of immune globulin and a maintenance dose of rituximab every six months.
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On average, the diagnosis of SPS takes about seven years from the start of symptoms, according to the Stiff Person Syndrome Research Foundation. It is most commonly diagnosed in people ages 40 to 50, but SPS can also appear in older adults and in children. It affects about twice as many women as it does men, according to the National Institute of Neurological Disorders and Stroke.
This article is for informational purposes only and is not meant to offer medical advice.
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