Emery-Dreifuss Muscular Dystrophy: A Rare but Important Diagnosis
Emery-Dreifuss Muscular Dystrophy Described by Distinct Clinical Presentation
Emery-Dreifuss muscular dystrophy (EDMD) is a rare type of muscular dystrophy that has a distinctive clinical presentation that led to its description. It is caused by genetic changes in the EMD and LMNA genes and affects the muscles, heart, and nervous system. The clinical triad of EDMD includes joint contractures of the Achilles elbow and posterior neck tendons, which begin in childhood or adolescence. EDMD is inherited in various ways, and diagnosis is essential for proper management of the condition.
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