In a video sent on social networks Thursday morning, Celine Dion announced that she had a very rare neuromuscular disease, stiff person syndrome (RPS), or Moersch-Woltman syndrome. Her symptoms being too overwhelming at the moment, she canceled her European tour which was scheduled for next winter. “To find you, I have no choice but to focus on my health,” said the singer, tears in her eyes.
PRS is an autoimmune disease characterized by progressive muscle stiffness and recurrent episodes of painful muscle spasms. It affects around one in a million people. The duty spoke with Karine Garneau, neurologist at the Center hospitalier de l’Université de Montréal (CHUM), specializing in neuromuscular and neurophysiology, to better understand the disease, how it affects the daily lives of people who suffer from it, and how treat it.
How can RPS affect the daily lives of people who have it, and can it have different degrees of intensity?
Since it is a very rare disease, it is very difficult to study it and take the average measurement. Its effects are also very variable. In all cases, the disease affects the muscles, especially the abdominals and the muscles of the back, around the column. These muscles are crucial for us to walk normally, to sit normally. Over time, the disease can also spread to the arms and legs, or even to all the muscles of the body.
The SPR therefore has an impact on people’s daily lives. A person who has a job of a more sedentary nature could be a little less inconvenienced in his daily life. However, it might be more difficult for someone who needs to use their body in all aspects of their job, like Mr.me Dion, who has to perform and who has to move fluidly.
Why does the disease mainly affect women, and how does it affect the muscles?
Because it is a condition called autoimmune and these diseases mainly affect women between the ages of 20 and 50, of childbearing age, for several reasons. Our body produces all kinds of antibodies to defend itself against microorganisms and viruses. In the case of autoimmune diseases, for reasons that we do not know, these antibodies will attack part of the nervous system.
With SPR, the disease attacks a part of the nervous system that normally allows muscle relaxation. If we lose this system, the muscle contracts involuntarily, uncontrollably. It leads to muscle stiffness and spasms.
What treatments can be considered?
Some people will get partial relief from medication, such as muscle relaxants, while others will continue to experience full symptoms. As with all movement conditions, several therapies such as physiotherapy, occupational therapy, and physical therapy can help, without necessarily controlling symptoms. However, any treatment that can be found develops by trial and error, since it is a very rare disease. We don’t have the luxury of having a sufficient number of patients to do certain research.
Since the disease is so rare and there are many neuromuscular pathologies, how can we diagnose this one precisely?
All neurologists have heard of this disease, but since we never see it, it is more difficult to recognize. It’s not the first disease to come to mind, because muscle stiffness represents a million potential diagnoses. Like many diagnoses in neurology, this one is also more difficult to confirm, because we do not have access to tests such as X-rays, for example, which establish direct links [de cause à effet]. We therefore evaluate a set of factors.
First, we rely on the clinical presentation, the state of our patients when they come to see us. They may have muscle spasms, sustained contractions, with a course that is consistent with the disease. Often it starts in the axial muscles, around the spine. There are also certain types of antibodies that may be present in about two-thirds of patients with the disease.
Electromyography is also performed. It is a study of muscle contraction, where an electrode is inserted into a muscle and its activity is recorded. In the case of SPR, the antagonistic muscles of those who are contracting will also contract continuously, even if they are not sensing. In another step, the patient is also asked to take a muscle relaxant and the sustained muscle contractions can be seen on electromyography to go away.
With rigor, we can therefore obtain a good diagnosis.