Dr. Kottil Rammohan, Professor of Clinical Neurology at the Miller School of Medicine, tackles the autoimmune and neurological disorders that affect the Canadian singer and affect one to two people in a million.
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 a five-minute post, Dion shared how stiff-person syndrome causes spasms and affects her ability to walk and sing.
“I’ve been dealing with health issues for a long time, but it’s been really difficult in the face of these challenges to talk about everything I’ve been through.” It hurts me to say I can’t.”
Dion, 64, is a Canadian singer perhaps best known for recording “My Heart Will Go On,” the theme for the Academy Award-winning film Titanic. She has also sold over 250 million records worldwide and has won her five Grammy Awards, including her 1993 album of the year.
Dr. Kottil Rammohan, professor of clinical neurology and former director of the Multiple Sclerosis Center of Excellence at the University of Miami Miller College of Medicine, described stiff-person syndrome and its treatment.
What is stiff person syndrome?
Stiff-person syndrome is a very rare neurological disorder. No one knows the exact prevalence, but it is believed to be 1-2 per million population. But with that being said, there’s probably more to it than that, as milder illnesses probably go undiagnosed.
Symptoms are muscle spasms. And, of course, a very gentle form of it. Patients may experience this and find it bothersome, but it does not actually interfere with activities of daily living and may not even show up on radar screens as a neurological disorder. If so, the patient should see a doctor. Also, unless you are in the middle of a seizure, many people may view it as a muscle contraction or spasm.
Spasms can be very serious and can tear muscles, break bones, and destroy joints.
How is stiff person syndrome diagnosed?
When these spasms start to get worse and become so disabling that they take the patient to the emergency room, the doctor will need to perform certain blood tests.
There is a new test that has identified specific antibodies in people. The presence of these antibodies may be present without stiff-person syndrome, and the antibodies may be markers, so both ways. They are called anti-amphiphidin antibodies. GAD is a key enzyme that aids in the production of glutamate into gamma-aminobutyric acid, the major inhibitory neurotransmitter in the central nervous system.
Perhaps the antibodies are the reason the person has this disorder. The important thing is to have these antibodies checked. If both or one exists, they don’t stop there. The presence of these antibodies may be markers of underlying cancer. It is important to make sure that such cancers are not present. Cancer usually affects the lungs, but in women it affects the breasts.
I recall an instance where the person went to the emergency room for severe convulsions and seizures and was treated with muscle-relaxing drugs. She underwent these treatments and was sent home with no diagnosis. , they labeled her not very meaningful.One day a friend of hers did a Google search. And she learned about stiff person syndrome. She wrote it down and told her doctor. He checked her blood for antibodies. Normal GAD antibodies have an upper limit of 1-4 and are considered normal. This patient’s GAD antibody was 1 to 68,000. She had some of the worst stiff person syndrome we’ve seen.
Who is most at risk of contracting or being diagnosed with this disorder?
Autoimmune disorders are usually more common in women and younger people than in older people. Only a handful of the people I worked with at her UM were women.
Is there a cure? What are some ways to manage symptoms?
You can manage the symptoms and even treat the underlying antibody problem that is causing it. The first, of course, is to give the muscles something to relax. Another way to manage symptoms is to have a pump attached to the spine to send medication through the spinal fluid to help with leg cramps.
After treating muscle spasms, it is important to remove the antibodies that cause them. Treatment includes plasmapheresis or administration of drugs to modulate the immune system, including drugs such as intravenous immunoglobulin and anti-B-cell therapy.
How important is it for someone like Celine Dion to raise awareness about this disease because it is so rare?
Undoubtedly, it is important to raise awareness of this disease, not only for her, but also for doctors.
Emergency rooms need to be careful because people may have severe muscle spasms and they don’t want to treat the spasm and send them home. can be mistaken for an addict. It must be recognized that this person is not an addict. They want relief from the problems they are experiencing.
