What is stiff person syndrome? A patient shares her story
youwIn emotional social media video posted on December 8, singer Celine Dion informed fans that she had been diagnosed with a rare neurological condition called stiff-person syndrome. A diagnosis was neither easy nor straightforward. “I’ve been struggling with health issues for a long time…now we know that’s what caused all the spasms I have,” said Dion, who is 54.
Here’s what to know about the condition and what it looks like.
What is stiff person syndrome?
According to National Institute of Neurological Disorders and Stroke, stiff-person syndrome has similarities to an autoimmune disease, in which the body’s immune system attacks its own cells. The condition is linked to higher levels of antibodies that bind to an enzyme called glutamic acid decarboxylase (GAD), which acts on a brain chemical, GABA, responsible for inhibiting nervous system activity central. GABA is normally in balance with another chemical that stimulates nerves, which in the case of muscles causes them to contract.
“Something in the software goes wrong and the inhibitory system starts to malfunction,” says Dr. Avi Almozlino, chief of neurology at Newton Wellesley Hospital, part of the Massachusetts General Hospital-Brigham system. “The inhibitory signals get weaker and weaker, and the excitatory signals start to take over, contracting the muscles uncontrollably.” People with the condition often experience muscle spasms in the trunk, arms, or legs and become more sensitive to sound and touch. Emotional triggers, including stress, can make muscle spasms worse. These episodes can make it difficult to walk or move around to perform basic daily tasks. In her video, Dion said she was not able to control her vocal chords and sing like she once did, and so postponed upcoming European tour dates.
How rare is stiff person syndrome?
Only about one in a million people suffer from stiff-person syndrome, and the condition affects twice as many women as men. Many people, like Dion, spend months or years trying to figure out the reason for their spasms, as the symptoms can mimic other autoimmune diseases.
One such patient is Maureen Materna, a 74-year-old woman from Cleveland, Ohio, who has lived with the disease since 2011. Like Dion’s diagnosis, it took doctors a while to reach hers. “I was always very active – I walked, biked and exercised, and I was one of those people who does 20 million things at once,” Materna says. Then she started having severe foot and leg cramps that wouldn’t go away. The episodes lasted about 45 minutes and left her screaming in pain. But otherwise, she was healthy.
After a visit to the ER, doctors gave her a Valium drip for pain relief, which helped, but she still didn’t know why she was having the spasms. Two years and about 20 doctors later, a neuromuscular specialist finally diagnosed him with stiff-person syndrome, based on his symptoms and the fact that Valium was the only intervention that seemed to alleviate some of the pain. “To this day, when I see doctors for anything else and they see I have stiff person syndrome, I can’t tell you how much [of them] said, ‘What is this? I never heard of it.
What is it like to have stiff person syndrome?
Materna can’t sit still for long periods of time, so even though she’s watching TV, she has to get up every 20 minutes or so. Her muscle blockage means she cannot accompany her husband and their grandchildren to performances, where she would have to sit for long periods of time. Until last year, bedroom slippers were the only shoes that made his feet comfortable. She walks every day, to stay active, but it’s a challenge. “I feel like I’m walking on broken glass,” she says. “But I’m not one to stay in bed. I like to see my neighbors and distract myself and somehow forget that the pain is there.
What causes stiff person syndrome?
Although it is not clear what triggers the syndrome in people who do not show signs of immune system disorders beforehand, one theory is that stiff person syndrome could be the immune system’s very early response to the cancer. “I’ve had patients who initially had stiff-person syndrome and one to two years later developed cancer,” says Dr. Robert Wilson, a neurologist at the Cleveland Clinic and Materna physician. “The body can detect early cancer and generate an immune response against these early cancer cells with antibodies that cross-react with the nervous system. These patients receive cancer treatment and improve. But there are no definitive studies confirming this potential cause of the syndrome yet.
Others develop stiff-person syndrome after different health issues, including bouts of viral infections or stressful experiences that can trigger the immune system to malfunction. “More research is needed on why some people develop stiff-person syndrome and others don’t,” Wilson says.
Can people recover from stiff person syndrome?
Currently, treatments for the disease include muscle relaxants and anticonvulsant medications, which can alleviate some of the symptoms of the disease, as well as intravenous antibody treatments which attempt to reset the immune system to reduce its attack on the body’s own cells. . . The monoclonal antibody rituximab (Rituxan), which is prescribed to treat certain autoimmune diseases and cancers, may also help. But people can have varying responses to these therapies, Wilson says. “Some patients react quickly after a few treatments: their immune system is reset and recalibrated. And there are others who don’t respond as well, so we focus on symptomatic relief, which can also help keep them from getting worse.
Materna tried getting infusions of an immunoglobulin, IgG, which helps boost the immune system, but the treatment didn’t help much and she quit after about six years. She also tried plasmaphoresis, which involves regularly removing and cleansing plasma to remove abnormal antibodies that attack the body’s immune cells. She developed a blood clot from the port required for the procedure and was unable to continue. Then Materna tried ketamine infusion to relieve his headaches, but these did not improve his symptoms either. She now takes Valium four times a day for the pain, along with a muscle relaxer, and does deep breathing exercises and meditation.
Every time she visits her doctor, Materna and her husband ask if there are any new treatments she can try, and so far the answer is no. But she hopes that with Dion’s diagnosis more attention will be paid to the rare disease. “Maybe with it, scientists will start doing more research,” she says. “It’s a tough disease.”
More must-reads from TIME
