Stiff-Person Syndrome

The paramedics who brought in this middle-aged patient said she frequently calls 911 with the same symptoms. This time, however, neither dispatch nor the medics could understand her. Her husband allegedly refused to talk to the medics and police who responded to the emergency call.

When I interviewed the patient, she said, “Yes” to every physical complaint. Except for having a cough, it was obvious her condition was not new. I was unable to understand why she specifically felt she needed to come to the emergency department that night.

According to the patient’s medical record, she suffered for years with daily episodes of debilitating muscle spasms. Typically, her back muscles would tighten and then the spasms would spread to her extremities. This usually occurred in early mornings. The patient had been unsuccessfully treated with various muscle relaxants. Multiple blood tests, CT scans and MRIs were all normal. Finally, a blood test came back positive for Anti-GAD 65 antibodies, and the patient’s regular doctor diagnosed her with Stiff-Person Syndrome. However, no treatment relieved her symptoms.

It’s a real challenge taking care of a patient like this in the emergency department. If someone has some strange disease we have never heard of before, we wonder what bad complication the patient might have and what testing might be helpful. We don’t want to admit the patient to the hospital unnecessarily, but we are nervous to send the patient home, thinking we might miss something.

In this case, we tested her blood and urine and did a chest x-ray to make sure she didn’t have some sort of infection. All turned out normal. Eventually, we were able to get her husband to come in and vouch that she was at her baseline “normal.” He took her home.

What is Stiff-Person Syndrome? Stiff-person syndrome (SPS) is a rare neurological disorder. It is characterized by muscle rigidity in the trunk and limbs and a heightened sensitivity to noise, touch, and emotional distress, which can set off muscle spasms.

Abnormal postures, often hunched over and stiffened, are characteristic of the disorder. People with SPS can be too disabled to walk or move. They are often afraid to leave the house because street noises, such as the sound of a horn, can trigger spasms and falls. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. Scientists don’t yet understand what causes SPS, but research indicates it is the result of an autoimmune response gone awry in the brain and spinal cord. The disorder is often misdiagnosed as Parkinson’s disease, multiple sclerosis, fibromyalgia, psychosomatic illness, anxiety or phobia.

A definitive diagnosis can be made with a blood test that measures the level of antibodies against glutamic acid decarboxylase (GAD) in the blood. GAD is an enzyme involved in the synthesis of an important neurotransmitter in the brain.

Check out http://en.wikipedia.org/wiki/Stiff-Person_Syndrome for more information on this amazing and sad condition.