(Montreal) About one person in a million suffers from the syndrome that Celine Dion announced Thursday morning to be affected, but it is possible to manage the symptoms of the disease to offer the patient a relatively normal quality of life.
Approximately two-thirds of patients are women, according to the Orpha.net site, which serves as a reference on orphan diseases online.
Stiff person syndrome, or Moersch-Woltman syndrome, is an autoimmune disease in which the patient’s immune system causes dysfunction of interneurons in the spinal cord, explained Dr. Stéphan Botez, who is a neurologist at the CHUM.
These interneurons, he said, help coordinate muscle activity, for example by flexing the biceps while preventing the triceps from contracting when one wants to bend the forearm.
“If these interneurons aren’t working well, both of your muscles will contract at the same time, which will lead to pain, stiffness, and also loss of function,” he said.
Let’s just remember that we’ve been hearing for a while that the 54-year-old singer suffers from muscle spasms that force her to interrupt her professional activities. The peak incidence of the disease is around age 45, according to Orpha.net.
The diagnosis can take a long time to come, indicated Doctor Botez, who evokes an “obstacle course” for the patient and describes a disease whose evolution can be “sneaky”.
“We must always listen attentively to the symptoms of patients so as not to miss the diagnosis,” said Dr. Botez, who diagnosed only one case of stiff person syndrome in twelve years of practice at the CHUM. The test which will make it possible to arrive at the diagnosis is not a test which is done routinely. »
Because the abnormalities are subtle on neurological examination, he added, patients will often be seen seeing a succession of doctors and specialists before arriving at a diagnosis.
The latter will often occur after an electromyographic examination, when needles inserted into the muscles will detect abnormal functioning, in particular contractions. The amount of certain antibodies circulating in the body will also be a determining indicator of the presence of the disease.
The first muscles to be affected are usually the abdominal muscles, Dr. Botez said, followed by the paravertebral musculature. The problem may then spread, without anyone understanding why, to the lower muscles and cause falls.
The first line treatment for the disease is to administer drugs to help the interneurons perform their role more effectively. In case of failure, one can also try to neutralize the antibodies which interfere with the interneurons.
There is no real cure for the disease, but the symptoms can usually be treated well, made tolerable or kept under control.
Dr Stéphan Botez, neurologist at the CHUM
Autoimmune diseases affect three times more women than men.