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Anti-SRP myositis: a diagnostic and therapeutic challenge
Merve Cansu Polat1, Didem Ardıçlı2, Banu Çelikel Acar1
1Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Türkiye.
Insights
Anti-signal recognition protein (anti-SRP) myopathy is a rare pediatric condition. This case highlights successful treatment with rituximab in a young child, improving muscle function and enzyme levels.
Area of Science:
- Pediatric Rheumatology
- Neuromuscular Disorders
- Autoimmune Diseases
Background:
- Anti-signal recognition protein (anti-SRP) myopathy is a rare idiopathic inflammatory myopathy affecting children.
- Early recognition and intervention are crucial for managing this condition.
Observation:
- A 3-year-old girl presented with rapid, progressive proximal muscle weakness, elevated creatine kinase, and myopathic changes on biopsy.
- Initial treatment with corticosteroids, IVIg, and methotrexate failed to halt disease progression, leading to respiratory distress and dysphagia.
Findings:
- The patient tested positive for anti-SRP autoantibodies.
- Addition of rituximab to conventional therapy resulted in independent ambulation and normalized muscle enzymes by 15 months post-diagnosis.
Implications:
- This case underscores the importance of early anti-SRP myositis diagnosis in pediatric patients.
- Rituximab offers a promising therapeutic option for severe, refractory anti-SRP myopathy in children.
Background:
Anti-signal recognition protein (anti-SRP) myopathy is a rare idiopathic inflammatory myopathy in children. Herein, a 3-year-old patient with severe anti-SRP myopathy showing a rapidly progressive disease course is presented in order to increase the awareness of pediatricians about idiopathic inflammatory myopathies.
Case Presentation:
A previously healthy 3-year-old girl presented with progressive symmetrical proximal muscle weakness that caused difficulty in climbing stairs for two months prior to evaluation, and a marked elevation of the serum creatine kinase levels. A skeletal muscle biopsy revealed necrotic and regenerating processes, with mild inflammatory changes. Myositis-specific and associated autoantibodies tested by the immunoblot method were positive for anti-SRP. Pulse corticosteroid, intravenous immunoglobulin, and methotrexate were administered. However, muscle weakness progressed, respiratory distress and dysphagia developed. Rituximab was initiated. While on rituximab treatment, she was able to walk independently and muscle enzymes were within normal range at the 15th month of diagnosis.
Conclusion:
Early diagnosis of patients with anti-SRP myositis is important to control inflammation and prevent disease progression and complications. To our knowledge, our patient is the youngest case reported in the literature and was successfully treated with rituximab added to conventional therapy.
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