Stiff Person Syndrome (Including the Expanding Clinical Spectrum of Pediatric-Onset)

[Emily]

https://www.sciencedirect.com/science/article/abs/pii/S0887899420303192
Anusha K. Yeshokumar, Lisa R. Sun, Scott D. Newsome,
Defining the Expanding Clinical Spectrum of Pediatric-Onset Stiff Person Syndrome,
Pediatric Neurology,
Volume 114,
2021,
Pages 11-15,
ISSN 0887-8994,
https://doi.org/10.1016/j.pediatrneurol.2020.09.007.
(https://www.sciencedirect.com/science/article/pii/S0887899420303192)
Abstract: Background
We aimed to characterize the spectrum of clinical features and examination findings in pediatric-onset stiff person syndrome.
Methods
Medical records were reviewed for all patients treated for stiff person syndrome with symptom onset in childhood at a tertiary medical center between March 2001 and February 2019.

Results

Of the 15 individuals who met inclusion criteria, 11 (73%) were female and 13 (87%) were Caucasian. Median age at symptom onset was 14.8 years (range 8.4 to 16.9), and median latency from symptom onset to diagnosis was 6.2 years (range 0.4 to 15.0). Nine individuals (60%) were not diagnosed until adulthood. The most common presenting features were painful spasms (n = 12, 80%), hyper-reflexia (n = 11, 73%), axial rigidity (n = =9, 60%), lower extremity rigidity or spasticity (n = 8, 53%), gait abnormalities (n = 6, 40%), and hyperlordosis (n = 6, 40%). Other noted features included anxiety (n = 5, 33%), dysautonomia (n = 3, 20%), and cranial neuropathies (n = 3, 20%). Personal (n = 9, 60%) and family history (n = 9, 60%) of autoimmune conditions was common. Serum antiglutamate decarboxylase 65 antibodies were found in 13 individuals (87%). Nearly all individuals received immunotherapy (n = 14, 93%), symptomatic medications (n = 15, 100%), and nonpharmacologic therapies (n = 14, 93%). However, most had persistent physical limitations, particularly impaired walking (n = 7, 47%) and inability to carry out previous activities (n = 14, 93%).

Conclusions

There is a wide spectrum of typical and less common features seen in individuals with pediatric-onset stiff person syndrome. Despite symptom onset in childhood, diagnosis is often delayed until adulthood, at which point disability accrual is frequently seen. Early recognition is vital to address symptoms and may potentially limit future disability.

Keywords: Stiff person syndrome; Pediatrics; Autoimmune; Spasticity; Rigidity

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[Emily]

https://www.today.com/health/what-stiff-person-syndrome-woman-shares-story-t195466
'I often can't move': What it's like to live with stiff person syndrome

"After symptoms that ranged from mild to worrisome, I learned that I have stiff person syndrome, a condition that affects 1 in a million people."
​
Oct. 21, 2020, 1:38 PM CDT / Source: TODAY

By Meghan Holohan Jane Lees, 58, lives in Indianapolis and used to work in media. Last year, she suddenly lost a lot of weight and began experiencing extreme muscle pain. She learned a rare condition was behind it. She told her story to TODAY to encourage others to advocate for their health.
Everyone likes to think of themselves as 1 in a million and last year I learned I truly am. After a series of symptoms that ranged from mild to worrisome, I learned that I have stiff person syndrome, a neurological condition that affects 1 in a million people, mostly women. Having a unique condition has been tough, but I have spent the time trying to understand who I am now that I live with this rare illness.

I ​first noticed something wrong when I joined my daughters for vacation last year in Florida. I struggled to keep up with them. But the real wake-up call came when I visited my college roommate and she was shocked by my appearance — I weighed about 87 pounds after suddenly dropping 20 pounds in a month without explanation.

Then in early May, I woke one morning and realized I could no longer ignore what was happening. I felt like I had the flu, but I had received a flu vaccination. Did I somehow get the flu from the vaccine? Doctors felt somewhat puzzled by my condition, but found that I had an infection and treated me for it...