Stiff Person Syndrome

"When I call her and she's busy, I speak to my sister Linda who lives with her and tells me that's she's working hard."

"I honestly think that she mostly needs to rest. She always goes above and beyond, she always tries to be the best and top of her game."

"At one point, your heart and your body are trying to tell you something. It's important to listen to it."

[Performing] is innate to her, she's disciplined in every area of her life ... We can't find any medicine that works, but having hope is important."

"[Celine is] listening to the top researchers in the field of the rare disease [stiff person syndrome, but has not yet found a treatment that works]."

Claudette Dion

National Institute of Neurological Disorders and Stroke

"I was going to the doctor's every week with different things each time, for example, one week my left leg wouldn't go where I wanted it to go."

"I'd take my son Chris into the playground and start holding his hand. I'd be OK to get to the classroom, but coming back out, it just seemed as if the playground was about a thousand times bigger than it really was. I'd have to find someone I knew -- one of the mums or dads -- and walk with them. It is such a cruel condition."

"The neurological specialist I was referred to said, 'This looks like stiff-man syndrome, but don't worry, it won't be that, it's far too rare and I've never seen a case of it."

"[When it turned out to be just that], he said, 'Your condition will get worse until you're in spasm all the time, when you'll have to stay in bed, and then you'll die."

"My specialist has since tried me on several different medications and I know that some others benefit from Intravenous Immunoglobulin Therapy [a mixture of antibodies used to treat several health conditions], but the only one that works for me is diazepam."

"You don't die of it, you die from complications that arise from it. And to be honest, it's horrid. It really is horrid. For the majority of people with it who are bedbound, it's just a really horrible way to live."

Liz Blows, former nurse, head, Stiff Man Syndrome Support Group, East Yorkshire, England

Singer Celine Dion was recently diagnosed with the rare condition known as Stiff Person Syndrome (SPS), a rare neurological disorder that can lead to muscular rigidity. A devastating and frightening diagnosis, but when the singer made a public announcement that she is suffering from SPS, and could no longer make performing commitments, those suffering from the syndrome benefited in the sense that the condition has come into the public sphere.

Yale Medicine

This condition is so rare that one in a million people are diagnosed with it, a condition not very well understood, characterized by fluctuating muscle rigidity in the trunk and limbs, along with a heightened sensitivity to stimuli like sound, touch and emotional distress, any of which can set off muscle spasms, according to the National Institute for Neurological Disorders. Sufferers can be reluctant to leave their homes, fearful of noise sensitivity. They may experience falls frequently and develop abnormal postures while living with chronic pain and little recourse to effective treatment.

The group operated by Liz Blows who has been afflicted with SDS for 25 years, has 959 members; a global membership, mostly however from the U.K. She had spent a week in hospital where other conditions were ruled out, which led the neurologist who initially took her on as a patient to reluctantly conclude that she had contracted stiff person syndrome, the first such patient ever in his practice.

The syndrome first presented itself in 1956, in the United States, with a grim prognosis. Treatment remains varied, aimed at slowing the condition's progression, rather than attempting a cure. People afflicted with SPS eventually learn to live with the symptoms, varying immensely from individual to individual. In her investigation of what was known 25 years ago about the condition, Liz Blows discovered the first line of treatment was Diazepam, a version of Valium from the benzodiazepine family. It acts as an anxiolytic, commonly used for seizures, muscle spasm and anxiety.

 

Stiff-person syndrome is an autoimmune disorder of the nervous system, often resulting in progressive, severe muscle stiffness and spasms of the lower extremities and back. It also can affect other body regions.  Mayo Clinic

Types of stiff person syndrome

There are several different subtypes or classifications for SPS, including:

• Classic SPS: This is the most common form. It’s associated with GAD (glutamic acid decarboxylase) antibodies, though studies have reported other antibody associations.

• SPS variants: There are several variants of SPS that can involve specific parts of your body or involve more prominent incoordination (ataxia).
• Progressive encephalomyelitis with rigidity and myoclonus (PERM): PERM is a more severe variant of SPS causing decreased consciousness, eye movement issues, ataxia and autonomic dysfunction. PERM commonly requires management in a hospital due to autonomic dysfunction.