Emery-Dreifuss muscular dystrophy is a rare hereditary disease characterized by a triad of symptoms: early contractures of the flexors of the elbow, Achilles tendon and cervical muscles, myopathy located mainly in the humeroperoneal muscle group and disorders of the cardiac rhythm and/or dilated cardiomyopathy. The basis of the disease is a mutation of Xq28 which codes the protein emerin. Women (transmitters) are asymptomatic or suffer only from cardiac affection. In addition to the form linked to the X chromosome there exists also a clinically non-differentiable autosomal dominant form of the disease (the gene locus was not found so far). Emerin is ubiquitary, i.e. it is present in all cells and body tissues resp., it is thus not exclusively a muscle protein. It is located in the inner nuclear membrane, it can be visualized immunohistochemically by means of the monoclonal antibody. This disease was not diagnosed in the Czech Republic so far. By investigation of the database of the cardiological clinic 10 subjects were found with a severe impairment of the rhythm and/or cardiomyo- pathy which developed before the age of 40 years. In one male patient (28 years) suffering from the age of 16 years from serious disorders of the cardiac rhythm on account of which at the age of 26 years a pacemaker had to be implanted, in the general clinical picture general areflexia, hyperlordosis, scapula alata, and mild bilateral atrophy of the m. triceps brachii were found. Muscular biopsy revealed complete absence of immunoreactivity of emerin. EMG examination revealed a small and brief MUP correlating with the picture of myopathy. CK was elevated to treble the value. DNA analysis confirmed mutation of the EDMD gene. This is the first case of detection of a patient with Emery-Dreifuss muscular dystrophy in the Czech Republic.

        Key words: Emery-Dreifuss muscular dystrophy, cardiomyopathy, emerin