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lüll Emery-Dreifuss syndrome Emery AEJ Med Genet 1989[Oct]; 26 (10): 637-41Emery-Dreifuss muscular dystrophy is characterised by the triad of (1) early contractures of the elbows, Achilles tendons, and postcervical muscles; (2) slowly progressive muscle wasting and weakness with a humeroperoneal distribution in the early stages; and (3) a cardiomyopathy usually presenting as heart block. The early recognition of the condition is essential because the insertion of a cardiac pacemaker can be life saving. The disorder is usually inherited as an X linked recessive trait (linked to DNA markers around Xq28). However, occasionally it can be inherited as an autosomal dominant trait and there is an indication that this and the X linked form may in some cases have a neurogenic basis. For these reasons it has recently been proposed that the appellation 'Emery-Dreifuss syndrome' be used for this triad of symptoms and signs.|Cardiomyopathies/genetics[MESH]|Diagnosis, Differential[MESH]|Genes, Dominant[MESH]|Genetic Linkage[MESH]|Humans[MESH]|Male[MESH]|Muscular Dystrophies/diagnosis/etiology/*genetics[MESH]|Prognosis[MESH]|Syndrome[MESH]|X Chromosome[MESH] |