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- Salman Rashid, MD*,†,‡,§
- Marissa Dean, MD*,†,‖
- Huiyuan Jiang, MD*,†
- *Division of Neurology, Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Detroit, MI
- †Wayne State University School of Medicine, Detroit, MI
- ‡Division of Pediatric Neurology
- §Department of Pediatrics, and
- ‖Department of Neurology, University of Alabama at Birmingham, Birmingham, AL
AUTHOR DISCLOSURE
Drs Rashid, Dean, and Jiang have disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.
Presentation
A 15-year-old girl presents to the clinic because of her inability to run fast since age 5 years. During the past few years, she has developed difficulty in climbing stairs and walking for long distances, which has resulted in her dropping out of school. She also complains of pain in both legs. There are no symptoms suggestive of a systemic disease. Her neurodevelopment has been age appropriate, and her family history is noncontributory.
On examination, she has diffuse tenderness in her neck, thigh, and gluteal muscles. Individual muscle group testing is normal for muscle bulk and tone, but muscle pain limits testing for muscle strength and fatigability. Results of the remainder of the physical examination, including testing for the Gower maneuver, are normal.
Her initial creatine kinase (CK) level was 800 U/L (13 μkat/L) (reference range, 25–240 U/L [0.4–4 μkat/L]), but it has now risen to 2,000 U/L (33 μkat/L). Results of an extensive evaluation for rheumatologic and autoimmune disorders are normal. Magnetic resonance imaging (MRI) of bilateral thigh muscles shows gadolinium enhancement (interpreted as myositis). Muscle biopsy demonstrates a microscopic pattern consistent …
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