Celine Dion Diagnosed With Rare Neurological Condition: What is Stiff-Person Syndrome and Why Is It Often Misdiagnosed?

On Thursday, December 8, pop superstar Celine Dion announced that she is canceling and rescheduling her planned 2023 European tour after being diagnosed with stiff-person syndrome.

According to the US National Organization for Rare Disorders (NORD), this very rare neurological condition affects one in a million people in the general population. It causes progressive muscle stiffness or rigidity and painful muscle spasms. Here's what to know about this neurological condition:

Stiff-Person Syndrome Description

According to the New York Times, stiff-person syndrome is a rare autoimmune neurological condition that affects the central nervous system. The term was first coined in the 1920s after doctors described their patients as a falling "wooden man." Its exact cause is unknown, although Dr. Scott Newsome from Johns Hopkins Medicine said that the immune system is involved.

The condition may not be deadly, but it could significantly affect the patient's quality of life. More so, its associated complications can lead to a shortened life expectancy, like many other chronic conditions.

Neurology assistant professor Dr. Richard Nowak from Yale School of Medicine said that anyone at any age could get the condition. But it is more common among middle-aged adults, specifically those between ages 30 and 60, due to the highly stressful events during this period of life.

It is also more common among women, and other autoimmune conditions and cancers slightly increase the risk of developing the stiff-person syndrome.

Symptoms may include stiffness in the torso and abdomen, which can spread to the arms, legs, and face. The patient will initially experience a decrease in mobility and then affect their walking stance as they start to hunch over or lose the ability to walk altogether. Some people also experience painful muscle spasms or continuous aching.

Sadly, there is no cure for this condition, so doctors focus on the symptom and pain management. It is often a patchwork of medication and non-medication interventions. Botox injections may help, but severe symptoms are treated with immunotherapy and immunosuppressants to alleviate symptoms.

Why Is It Often Misdiagnosed?

Ever since the condition was identified in the 20th century, the name of the stiff-man syndrome was changed into stiff-person syndrome because women make up a majority of cases.

Diagnosis of this rare autoimmune disorder sometimes occurs alongside other autoimmune conditions, according to Science Alert. It can be diagnosed by testing for certain antibodies, such as GAD antibodies, via electromyography to evaluate the electrical activity in muscles.

However, the condition is also known to be misdiagnosed at times as a non-neurological condition. US-based research, titled "Stiff Person Syndrome Misdiagnosis: Clinical and Ancillary Testing Characteristics", published in the journal Neurology, reports that improved diagnostic accuracy will decrease chances of unnecessary treatments and costs for patients.

NORD advises stretching, massage, acupuncture, and other non-drug therapies or a mix that could help manage the symptoms. Dion said in her announcement that she has a great team of doctors working to help her and is working hard with her sports medicine therapist every day to build back her strength to perform again.

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