Orbital inflammatory disease: report of fourteen cases
DOI:
https://doi.org/10.36829/63CTS.v12i2.1918Keywords:
Dystrophin, Gowers, Myopathy, Pseudohypertroph, CPKAbstract
Duchenne muscular dystrophy (DMD) is an X-linked recessive hereditary myopathy (Xp21) caused by mutations in the DMD gene, which encodes dystrophin, a protein essential for muscle fiber stability. It predominantly affects males, and definitive diagnosis is confirmed through genetic testing. This article aims to present six clinical cases of pediatric patients who presented with progressive muscle weakness and were subsequently diagnosed with Duchenne muscular dystrophy. This is a descriptive observational case-series study based on a comprehensive clinical history, thorough physical examination, and the utilization of complementary diagnostic tests. The report of these cases represents an initial step toward fostering research interest in this pathology and encouraging early detection within the Guatemalan population.
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