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Pediatric stiff-person syndrome and related disorders: A systematic review
H Shafeeq Ahmed1, Purva Reddy Jayaram2, Deepika Reddy Aluru2
1Bangalore Medical College and Research Institute, K.R Road, Bangalore, 560002, Karnataka, India. shafeeqahmed2002@gmail.com.
Insights
Pediatric stiff-person syndrome (SPS) presents diverse clinical features and comorbidities, including type 1 diabetes and thyroid issues. Treatment often involves benzodiazepines, with varying outcomes, highlighting the need for tailored management strategies.
Area of Science:
- Neurology
- Immunology
- Pediatrics
Background:
- Stiff-person syndrome (SPS) is a rare, complex neuromuscular autoimmune disorder.
- Pediatric SPS cases present unique diagnostic and therapeutic challenges.
- Limited understanding of pediatric SPS necessitates comprehensive analysis.
Purpose of the Study:
- To systematically review and analyze the clinical profile of pediatric SPS.
- To investigate comorbidities associated with pediatric SPS.
- To evaluate treatment responses in pediatric SPS cases.
Main Methods:
- Systematic review adhering to PRISMA guidelines.
- Searched five databases up to March 2025 for pediatric SPS cases (age ≤ 20 years).
- Analyzed data from 49 cases across 41 reports, covering demographics, symptoms, comorbidities, treatments, and outcomes.
Main Results:
- 49 pediatric SPS cases identified globally, predominantly from the USA.
- Common comorbidities include type 1 diabetes mellitus and thyroid dysfunction.
- Benzodiazepines were the most frequent first-line therapy; corticosteroids, IVIG, and rituximab used adjunctively. Persistent symptoms occurred in 26.53% of cases.
Conclusions:
- Pediatric SPS exhibits significant clinical heterogeneity and a clear autoimmune basis.
- Findings support the autoimmune etiology of pediatric SPS.
- A proposed treatment protocol is formulated to guide clinical management.
Background:
Stiff-person syndrome (SPS) is a rare neuromuscular autoimmune disorder with significant diagnostic and treatment challenges, particularly in pediatric patients. Current understanding of pediatric SPS is limited; therefore, this systematic review aims to analyze the clinical profile, comorbidities, and treatment responses in these cases.
Methods:
A systematic review was conducted following PRISMA guidelines. Literature from five databases was searched up to March 2025, identifying cases of pediatric SPS (age ≤ 20 years). A total of 961 studies were screened, resulting in 49 cases from 41 reports being included. Data on demographics, symptoms, comorbidities, treatment, and outcomes were analyzed.
Results:
The 49 cases were distributed across 15 countries, with the highest representation from the USA (44.89%, n = 22). The median age was 12 years (IQR: 7-17), with a nearly equal male-to-female ratio (51.02% male). Comorbidities were present in 55.1% (n = 27), with type 1 diabetes mellitus (18.36%, n = 9) and thyroid dysfunction (14.28%, n = 7) being the most common. SPS subtypes included mainstream SPS (65.3%, n = 32), PERM (22.44%, n = 11), and stiff-limb syndrome (8.16%, n = 4). Benzodiazepines, primarily diazepam, were the most commonly used first-line therapy (51.02%, n = 25). Adjunctive treatments included corticosteroids (24.48%, n = 12), IVIG (18.36%, n = 9), and rituximab (14.28%, n = 7). Persistent symptoms were noted in 26.53% (n = 13) of cases.
Conclusion:
This study highlights the clinical heterogeneity and autoimmune nature of pediatric SPS. A proposed treatment protocol which may guide clinicians has been formulated.
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