D2I2.
genetic

Emery–Dreifuss muscular dystrophy

Emery–Dreifuss muscular (EDMD) is a type of muscular dystrophy, a group of heritable diseases that cause progressive impairment of muscles. EDMD affects muscles used for movement, causing , weakness, and contractures. It almost always affects the heart, causing abnormal rhythms, heart failure, or sudden death. It is rare, affecting 0.39 per 100,000 people. It is named after Alan Eglin H. Emery and Fritz E. Dreifuss.

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Symptoms — what it feels like

  • ·Joint contractures, muscle weakness, heart issues

Causes — why it happens

  • · in one of several gene, including EMD LMNA genes

How it's found

  • · testing. Adjunctive: creatine kinase, EMG, and muscle MRI

Treatment

  • ·Physical therapy, orthopedic , pacemaker

Complications

  • ·Heart failure
Plain-language summary adapted from Wikipedia. Not medical advice.