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Neurologist explains autoimmune disease affecting Celine Dion

Dr. Kottil Rammohan, professor of clinical neurology at the Miller School of Medicine, addresses the autoimmune and neurological disorder that is affecting the Canadian singer and that impacts about one or two in a million people.
FILE - In this Feb. 27, 2011 file photo, singer Celine Dion arrives before the 83rd Academy Awards, in the Hollywood section of Los Angeles. CBS says Dion will host a holiday special spotlighting adoption. The network said Dion also will perform, along with Ne-Yo, Chris Young and others, on the 15th annual "A Home for the Holidays," special that airs on Dec. 18, 2013. (AP Photo/Chris Pizzello, File)
Singer Celine Dion photographed on the red carpet before the 83rd Academy Awards in 2011. Photo: The Associated Press

In an emotional video message, superstar singer Celine Dion recently announced on her Instagram that she has Stiff-Person Syndrome—a rare neurological disorder.

In the five-minute post, Dion shared how Stiff-Person Syndrome was causing spasms that affect her ability to walk and sing.

“I’ve been dealing with problems with my health for a long time, and it’s been really difficult for me to face these challenges and to talk about everything that I’ve been going through,” Dion said in her video. “It hurts me to tell you that I won’t be ready to restart my tour in Europe in February.”

Dion, 64, is a Canadian singer perhaps most recognized for her recording of “My Heart Will Go On,” the theme of the Academy Award-winning motion picture “Titanic.” She also has sold more than 250 million records worldwide and has received five Grammy Awards, including Album of the Year in 1993.

Dr. Kottil Rammohan, a professor of clinical neurology and the past director of the Multiple Sclerosis Center of Excellence at the University of Miami Miller School of Medicine, explained Stiff-Person Syndrome and its treatment.

What is Stiff-Person Syndrome?

Stiff-Person Syndrome is an extremely rare neurological disorder. And no one really knows the exact prevalence, but it is thought to be like one to two per million in population. But with that said, there is probably more of it because the milder forms of the disease probably never get diagnosed.

The manifestation is muscle cramps. And of course, a very mild form of it. Patients may experience this and find it an annoyance, but it really does not interfere with any activities of daily living and may not even make it onto the radar screen as a neurological disorder. When the problem is significant enough, it takes patients to their doctors. And unless they are in the midst of an attack, even then, many people may pass it off as a muscle contraction or cramp.

The spasms can be so severe that it can tear muscles, break bones, and destroy joints.

How is Stiff-Person Syndrome diagnosed?

Once these cramps start to get worse, to the point that they start to interfere with life, and take patients to the emergency room, the doctor who sees them will need to run specific blood tests.

There have been new tests that have identified specific antibodies in people. The presence of these antibodies can present without Stiff-Person Syndrome and the antibodies can be a marker—so it goes both ways. The antibodies are called anti-glutamic acid decarboxylase (GAD) and anti-amphiphysin antibodies. GAD is an important enzyme that assists in the production of a glutamic acid to gamma amino butyric acid, the main inhibitory neurotransmitter of the central nervous system.

More likely than not, that antibody is the reason the individual has this disorder. The important thing is that they check for these antibodies; and if both or one is present, they don’t stop there. Sometimes the presence of these antibodies can be a marker for an underlying cancer. It is important to look for and make sure that such a cancer is not present. Usually the cancer affects the lungs—or in women, the breast.

I recall one instance where the person would go to the emergency room for severe cramps and attacks and they would treat her with medications that relax the muscle. She would go through these treatments, and they would send her home and there would be no diagnosis. Or they gave her a label that didn’t really mean much. One day, her friend did a Google search. And she learned about Stiff-Person Syndrome. She wrote it down and told her doctor about it, and he checked her blood for the antibodies. The GAD antibody upper limit of normal is one to four—that’s considered normal. This patient’s GAD antibody was one to 68,000. She had some of the worst Stiff-Person Syndrome we had seen.

Who is most at-risk of contracting or being diagnosed with this disorder?

Usually, autoimmune disorders are more common in women and in young people rather than old. All the people who I have taken care of at UM—really a handful of them—all of them have been women.

Is there a treatment for it? What are some ways to manage the symptoms?

You can manage the symptoms and also treat the underlying problem of the offending antibody. First, of course, is giving something to relax the muscles. Something like Valium, which is excellent for this condition, or Baclofen. Another way to manage the symptoms would be to install a pump in the spine that sends medication through spinal fluid that helps with the spasms in the legs.

After treating for the muscle spasms, it is important to try to remove the offending antibody. The treatment involves plasma exchange or giving medications to modulate the immune system, including drugs like intravenous immunoglobulin or anti B cell therapies.

Because it is so rare, how important is it for someone like Celine Dion to raise awareness about this disease?

Without a doubt, it is important for not only her, but even physicians, to bring awareness to the disease.

Emergency rooms should be aware, because a person may come in with severe muscle spasms and we don’t want to just treat the spasms and send them home. Some people with these types of symptoms can be mistaken as addicts. We have to realize that this person is not a junkie, they want relief for the problem that they’re going through.