Abstract:
:Emery-Dreifuss muscular dystrophy (EDMD) is the third most common X-linked muscular dystrophy. This disorder is characterized by childhood onset of early contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities. Weakness is slowly progressive, but there is a broad spectrum of clinical severity. Patients and carriers are at risk of sudden death. Regular cardiac evaluation is mandatory to assess the risk of cardiac arrhythmias. Unique atrial pathology is seen at autopsy. The mutated gene in EDMD is localized to the long arm of the X chromosome. Mutations in the gene lead to abolished synthesis of the gene product, emerin. Emerin is localized to the nuclear membrane of skeletal, cardiac, and smooth muscle. The term Emery-Dreifuss syndrome describes patients who have the EDMD phenotype without X-linked inheritance. There is no treatment for the underlying disease, but early placement of pacemakers may be lifesaving.
journal_name
Semin Neuroljournal_title
Seminars in neurologyauthors
Zacharias AS,Wagener ME,Warren ST,Hopkins LCdoi
10.1055/s-2008-1040827subject
Has Abstractpub_date
1999-01-01 00:00:00pages
67-79issue
1eissn
0271-8235issn
1098-9021journal_volume
19pub_type
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