pediatrics
Emery Dreifuss Dystrophy
Diagnosis of Emery Dreifuss Dystrophy
DNA mutation analysis Sometimes muscle biopsy Diagnosis of Emery-Dreifuss dystrophy is indicated by clinical findings, age at onset, and family history. The diagnosis is supported by mildly increased serum creatine kinase levels and myopathic features on electromyography. Mutation analysis of DNA from peripheral blood leukocytes is the primary confirmatory test. If genetic testing does not confirm the diagnosis, then muscle biopsy can be done. 