Related Experiment Video
Updated: Jun 2, 2026
08:51
The Use of Thermal Infra-Red Imaging to Detect Delayed Onset Muscle Soreness
Published on: January 22, 2012
[Myalgia during warming-up in a 12-year-old boy]
Marianne Koenraads1, Jolet A den Boer, Henk Kerkhoff
1Albert Schweitzer Ziekenhuis, Dordrecht. the Netherlands. Koenraads.m@gmail.com
Nederlands Tijdschrift Voor Geneeskunde
|April 30, 2011
Summary
McArdle disease, a genetic myopathy, causes painful muscle cramps due to muscle phosphorylase deficiency. Diagnosis in a 12-year-old boy involved clinical symptoms and genetic testing, highlighting the need for multidisciplinary care.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- McArdle disease is an inherited myopathy stemming from muscle phosphorylase deficiency.
- It manifests as exercise-induced muscle pain, potentially leading to rhabdomyolysis and acute kidney injury.
Observation:
- A 12-year-old boy presented with leg pain during exercise, characteristic of McArdle disease.
- Symptoms included childhood-onset pain during walking and leg myalgia during soccer warm-ups, relieved by rest.
Findings:
- Elevated serum creatine kinase levels supported the clinical suspicion of McArdle disease.
- Molecular genetic analysis confirmed the diagnosis in the pediatric patient.
Implications:
- Currently, no effective gene therapy exists for McArdle disease.
- A coordinated multidisciplinary approach involving neurologists, pediatricians, physiotherapists, and nutritionists is crucial for patient management.
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