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Muscular dystrophy is a group of inherited genetic conditions. Gene mutations lead to defectivemuscular structural protein production, thus making the muscles weak, leading to poor function and disability. Early diagnosis is crucial, as treatment is aimed to halt disease progression. Although newer treatments are currently available, time taken to reach diagnosis has still not improved.1
Here are two case reports of children who were referred for different concerns to neurodevelopmental clinic run by Community Paediatrics. The children had a diagnosis of muscular dystrophy.
The aim of this letter is to increase awareness of suspecting muscular dystrophy in children who present with subtle signs.
Case 1
A 5-year-old …
Footnotes
Competing interests None declared.
Provenance and peer review Not commissioned; internally peer reviewed.