stiff person syndrome
How disabling is the disease?
Celine Dion suffers from stiff person syndrome.
© 2017 Tinseltown/Shutterstock.com
How disabling is the disease Celine Dion suffers from? An expert explains in an interview about the stiff person syndrome.
The news of Celine Dion (54) and her illness went around the world. The singer was diagnosed with stiff-person syndrome, a neurological condition that is currently affecting her health and body so much that she has had to postpone further concerts. What exactly is the syndrome? What symptoms can occur with an illness? And is the disease really incurable? Prof. Dr. medical Dipl. Psych. Frank Erbguth, President of the German Brain Foundation eV, answers the most important questions in an interview with the news agency spot on news.
What exactly is Stiff Person Syndrome?
Prof. Dr. medical Dipl. Psych. Frank Erbguth: The syndrome was first described in 1956 in 14 cases. As the name of the syndrome suggests, massive muscle stiffness associated with muscle spasms is the hallmark of this condition. The trunk muscles are mainly affected, but the legs are affected much less frequently and the arm muscles very rarely. Since both the phenomena of the disease and the causes are quite broad, one speaks scientifically today of the stiff-person spectrum disease.
Gait disorders with blockages and falls are often caused by the muscle cramps. Dramatic incorrect posture and skeletal deformities can also occur. Furthermore, there is often an increased sensitivity to external stimuli, such as touch, cold, heat or noise, an increased startle, episodically occurring vegetative disorders such as sweating or an accelerated heartbeat and psychological abnormalities, especially anxiety disorders – which is understandable in view of the symptoms.
What can be the causes of this disease?
Erbguth: Although the symptoms primarily affect the muscles, the cause lies in a disorder of the nervous system. In the spinal cord in particular, there is always a balance between exciting and slowing down activities on the nerve impulses that are transmitted to the muscles. An important slowing-down messenger is, for example, the substance gamma-hydroxybutyric acid (GABA). This is produced with the help of the enzyme glutamate decarboxylase (GAD). It is precisely against this enzyme that those affected develop antibodies (GAD-AK). To put it bluntly, this means that there is no brake fluid for nerve stimuli. The stiff person syndrome is one of the autoimmune diseases.
How is the disease treated?
Erbguth: A distinction is made between treatment that starts with the symptoms (symptomatic therapy) and treatment that starts with the causes (causal therapy). The mainstay of symptomatic therapy are all muscle-relaxing measures, from physiotherapy to anti-spastic medication from different drug groups. Also, “stimulating” situations of muscle spasms should be avoided.
The causal therapy tries to “shut down” the immune system, which forms the antibodies – here the range extends from cortisone preparations to aggressive immunosuppression drugs. Blood washing treatment can also be used.
Is stiff person syndrome common?
Erbguth: The disease is rare and it is estimated that about one to two people are affected per 1 million inhabitants. It cannot be completely ruled out that milder forms will be overlooked because they are not so conspicuous and the number of people affected could be a little higher. Women are affected twice as often as men.
Which people and which age groups are affected most frequently?
Erbguth: Stiff person syndrome can occur at any age. The mean age at onset is 46. Celine Dion, for example, also fits into this age group. The course is chronic. Gradual deterioration over months can be followed by stable phases over months to years. Acute flare-ups can also occur. Spontaneous healing is rare.
Why is stiff person syndrome incurable?
Erbguth: Unfortunately, the “non-curability” also applies to other autoimmune diseases. However, with some autoimmune diseases, the symptoms can be drastically reduced or suppressed entirely by suppressing special mechanisms of the immune system. For example in autoimmune intestinal inflammations such as ulcerative colitis, Crohn’s disease. Unfortunately, this does not work to the same extent in the case of the stiff-person syndrome, since other molecular disorders of nerve excitation are obviously also present.
Is a stage comeback conceivable for Celine Dion?
Erbguth: That depends on how severe the symptoms are, whether the vocal muscles are also affected and whether and how well the measures or medication mentioned work.