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This review outlines the diagnosis, genetics, and general management of inherited muscle diseases, with a specific focus on muscular dystrophy in children.
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This review summarizes the diagnosis, genetics, and general management of inherited muscle diseases, focusing on muscular dystrophy in children.
Inherited muscle diseases are heterogeneous with varying genetic etiologies and present with common symptoms and signs, including weakness, motor developmental delay, and hypotonia. To diagnose these various diseases, a meticulous family and clinical history, physical and neurological examinations, laboratory findings with electromyography, muscle biopsy, and genetic testing are needed. Here, I review several inherited muscle diseases, with a focus on muscular dystrophy in children and its genetics and general management.
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Jong‐Hee Chae (2008) conducted a review in Inherited muscle diseases and muscular dystrophy. Diagnosis and general management was evaluated. This review outlines the diagnosis, genetics, and general management of inherited muscle diseases, with a specific focus on muscular dystrophy in children.
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