Why Celine Dion was so brave to appear at the GRAMMYs as she continues to deal with Stiff Person Syndrome

Celine Dion was incredibly brave to appear at the GRAMMYS as her progressive condition called Stiff Person Syndrome (SPS) causes multiple physical neurological disabilities complicated by anxiety, phobia and emotional upset especially in front of crowds. This stems from a justifiable fear of stiffening up and falling. People who suffer from the condition are prone to intense muscle spasms or freezing especially when initiating walking which leads to a tendency to trip and ultimately fall. Celine would have known that these spasm are often triggered by noise, touch and emotional distress, so imagine how she would have felt walking on to the stage at The Stables Centre in front of thousands of people in the audience and millions more across the World?

Most people affected are fearful even to leave the house because street noises, such as the sound of a car horn or people shouting can trigger spasms and falls.   It's not just a fear of falling, many do actually fall frequently because they have impaired balance and do not have the normal reflexes to catch themselves. Very often this can lead to serious injuries which add further misery, distress and disability.

SPS is a very rare condition which is why it is often, initially, misdiagnosed as other progression neurodegenerative conditions such as Parkinson's disease, multiple sclerosis and fibromyalgia. In the early stages, some people are often told they have psychosomatic illness, anxiety or agoraphobia before a definitive diagnosis is made. Characteristically, this is via a blood test which reveals high levels of an immune protein called glutamic acid decarboxylase (GAD) antibodies.

Although the precise cause of SPD is still not fully understood, scientists have identified it as an autoimmune disorder. This means the body's immune system starts attacking its own tissues, in this case the brain, spine cord and nerves responsible for movement andco-ordination. In particular, it damages the pathways which allow the muscles to relax after they have contracted resulting in the characteristic stiffness or rigidity.

With appropriate treatment, SPS symptoms may be kept under control for several years. Several symptoms improve with oral diazepam (an anti-anxiety and muscle relaxant drug) or with drugs that alleviate muscle spasms, such as baclofen or gabapentin. The rate of progression varies from one person to another but unfortunately, over time, people with SPS may develop hunched over postures ultimately become too disabled to walk or move.

Ongoing studies including one funded by the National Institute of Neurological Disorders and Stroke are trying to find future therapies to delay the progression of this and other similar disabling conditions.

How is stiff-person syndrome diagnosed and treated?

Most people with SPS have elevated (higher) levels of GAD antibodies. Antibody titers are important for the diagnosis of SPS. A titer is a laboratory test that measures the presence and amount of antibodies in blood. Elevated GAD titers, up to 10 times above normal, also are seen in diabetes but in SPS the titers are very high (at least 10 times above the range seen in diabetes) or are present in the spinal fluid. 

Treating SPS showed that intravenous immunoglobulin (IVIg) treatment is effective in reducing stiffness, sensitivity to noise, touch, and stress and for improving gait and balance for people with SPS. IVIg contains immunoglobulins (natural antibodies produced by the immune system) derived from thousands of healthy donors.