Facts to know about Celine Dion’s rare stiff person syndrome

Celine Dion has a rare disorder known as stiff person syndrome. The singer postponed her European tour scheduled for 2023. Around one in one million persons have the condition, which can be painful and affect daily activities such as dressing, walking, and eating.

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In an Instagram video, Grammy-winning singer Celine Dion revealed that she has a rare disorder known as stiff person syndrome and postponed her European tour scheduled for 2023.

“While we’re still learning about this rare condition, we now know this is what’s been causing all of the spasms that I’ve been having,” Dion said in the video. “Unfortunately, these spasms affect every aspect of my daily life, sometimes causing difficulties when I walk and not allowing me to use my vocal cords to sing the way I’m used to.”

This was the first time many individuals learnt about the disease, as stiff person syndrome is diagnosed in around one in one million persons.

Symptoms that may precede a diagnosis of stiff person syndrome

The most typical symptoms of stiff person syndrome include bouts of intermittent stiffness and spasms. Occasionally, spasms will only affect a single limb, whether an arm or a leg. Most of the time, the complete body or the torso is involved in the spasm.

There are periods when the symptoms are somewhat less severe, but there are also occasions when they are extremely painful and make daily activities such as dressing, walking, and eating difficult or impossible. Anxiety and emotional distress symptoms frequently occur together in the same person.

When they are surprised, some people tend to respond in an extreme manner. A series of spasms, for instance, might be triggered by a deafening noise. Over time, stiffness and spasms may develop into a chronic condition, leading to changes in walking patterns.

Reasons for stiff person syndrome

It is believed that stiff person syndrome is an autoimmune condition. Many individuals with the disease have antibodies against glutamic acid decarboxylase (GAD Ab). This blood test is not included in the standard blood panels for blood counts or metabolic alterations; thus, it must be ordered separately.

There are situations when individuals with diabetes or thyroid disease have low anti-GAD antibody levels. However, when GAD levels are quite high, it can aid in diagnosing stiff person syndrome.

There is also a subset of [patients with stiff person syndrome related to cancers such as breast and lung cancer. These disorders, known as paraneoplastic syndromes, are associated with several autoantibodies, one of which is called amphiphysin.

Diagnosis of stiff person syndrome 

This is not an everyday diagnosis. This syndrome is predicted to affect approximately one in one million persons. There may be milder cases that are never diagnosed or that are misdiagnosed. Due to its rarity, many primary care physicians may be unfamiliar with this diagnosis.

Many common illnesses, such as nonspecific muscle cramps or multiple sclerosis, can induce symptoms similar to those of stiff person syndrome, making its diagnosis difficult. The diagnosis may not be considered until a neurologist, or neuromuscular expert has evaluated the patient. Muscle rigidity is one of the most common exam findings. When the evaluator passively moves a limb through its full range of motion and encounters additional resistance regardless of the speed of the movement, rigidity is present. Intermittent muscle cramping will not result in this exam finding.

Some patients will develop an expansion of their mid-back muscles. This is because these muscles regularly contract and stiffen. This may cause individuals to walk with a more stooped posture.

Anti-GAD antibodies are essential to the diagnostic process, as notably high levels characterise this illness. Physicians should remember this uncommon illness when examining patients who exhibit such stiffness or rigidity.

Stiff person syndrome treatment

In the first stages of treating stiff person syndrome, benzodiazepines, particularly diazepam, are frequently used as anti-anxiety drugs. The treatment with this drug is well-tolerated by many people with stiff person syndrome. Because of the potential for side effects and overuse when given for mild muscle cramps, these drugs should be used with caution. Additionally, some people benefit from muscular relaxants like baclofen.

However, many individuals with stiff person syndrome do not fully respond to drugs like these and may need additional immune system-modifying therapies. This may entail a series of IVIG infusions (immunoglobulins that provide the immune system feedback and calm it) or plasma exchange to remove antibodies from the blood.

The management of symptoms associated with stiff person syndrome may become increasingly challenging the longer the condition is allowed to progress untreated. This is true of many autoimmune disorders. It is essential to collaborate with a doctor capable of providing long-term management of the sickness because there is a possibility that this will be an ongoing or permanent problem.


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