Celine Dion’s diagnosis of stiff-person syndrome brought a rare neurological diagnosis into the public eye – two neurologists explain the science behind it

Until Dion’s revelation, most people had probably never heard of the condition. Worldwide, stiff-person syndrome affects only about 1 in a million people, mostly between the ages of 20 and 50, with twice as many women as men having the disorder.

 Stiff-Person Syndrome: A Treatment Update and New Directions

Stiff-person syndrome (SPS) is a rare and disabling central nervous system disorder with no satisfactory treatment. Muscle rigidity, sporadic muscle spasms, and chronic muscle pain characterize SPS. SPS is strongly correlated with autoimmune diseases, and it is usual to find high titers of antibodies against acid decarboxylase (GAD65).

 What I Wish People Knew About Stiff Person Syndrome

Imagine being diagnosed with a disease so rare that it affects just one in a million people. It is not something I could have imagined, that is until it became my reality. In 2019, I was diagnosed with stiff-person syndrome (SPS), a progressive, autoimmune and neurological condition that causes muscle stiffness/rigidity and painful spasms that can sometimes dislocate or break bones and limit my mobility. There is no known cause or cure for this condition, and it is so rare that very few physicians have even heard of it—which made the road to my diagnosis quite challenging.

Céline Dion reveals diagnosis of rare neurological disorder

“Céline Dion opening up about her diagnosis is really welcome as we know that contact with others can play a vital role in helping people to live well with their condition. A personal story like this one will hopefully enable more people to reach out and offer support to one another. Charities supporting people with rare conditions can often play a vital role in making these connections.”

Céline Dion reveals she has stiff person syndrome – an expert explains the condition

Stiff person syndrome is a very rare condition, affecting about one in a million people. It was first described in 1956 by Dr Frederick Moersch and Dr Henry Woltman at the Mayo Clinic in Minnesota. They called it stiff man syndrome. It is now recognised that most cases occur in women – about twice as many women as men are diagnosed with the condition. It is one of a range of autoimmune conditions that afflict about 4% of the global population, including thyroid disease, rheumatoid arthritis, type 1 diabetes and multiple sclerosis.

Celine Dion Says She Has a Rare Neurological Disorder

In an emotional Instagram video, the pop superstar explained she had stiff person syndrome and is postponing shows to rebuild her strength “and ability to perform again.”

Céline Dion was diagnosed with stiff-person syndrome. Here's how it affects people

The disorder causes "fluctuating muscle rigidity" and spasms that are triggered by things like loud noise, cold temperatures or sudden movement. The spasms can cause or exacerbate falls, which can result in further injury.

Celine Dion's Rare Condition Is a 'Horrible Disease' Says Woman with Stiff Person Syndrome

Maureen Materna, 74, opens up to PEOPLE about living the incurable neurological disease, which has been diagnosed in about one of every one million people.

Celine Dion’s Stiff-Person Syndrome Is ‘a Really Difficult and Disabling Disease,’ Expert Says

Dr. Scott Newsome, director of the Stiff-Person Syndrome Center at Johns Hopkins, discusses the autoimmune disease that's keeping the singer off the stage.

Clinical Spectrum of Stiff Person Syndrome: A Review of Recent Reports

“Classic” stiff person syndrome (SPS) features stiffness, anti-glutamic acid decarboxylase (anti-GAD) antibodies, and other findings. Anti-GAD antibodies are also detected in some neurological syndromes (such as ataxia) in which stiffness is inconsistently present.

Stiff-Man Syndrome and Variants

Recognition of classic SMS vs variants is important because appropriate therapy improves symptoms in most patients. Classification by anatomical extent and by GAD65 antibody serostatus gives important diagnostic and prognostic information.

What Is Stiff Person Syndrome?

Celine Dion canceled her upcoming tour after being diagnosed with this rare neurological condition. Here’s what we know.