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Emery‐Dreifuss syndrome in three generations of females, including identical twins
Author(s) -
Ørstavik Karen Helene,
Kloster Reidar,
Lippestad Carl,
Rode Lars,
Hovig Torstein,
Fuglseth Kari Nissen
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03611.x
Subject(s) - proband , cardiomyopathy , medicine , muscle contracture , wasting , cardiology , heart block , scoliosis , pediatrics , heart failure , surgery , genetics , electrocardiography , biology , mutation , gene
Emery‐Dreifuss syndrome is characterized by early contractures, slowly progressing muscle wasting and cardiomyopathy, often presenting as heart block. The syndrome is usually inherited as an X‐linked recessive. We present a family with four affected females in three generations, including a pair of identical twins. All patients developed elbow contractures, scoliosis, and stiffness of the spine and neck from the age of about 10, with little progression in later years. The proband developed cardiomyopathy at the age of 45, whereas her mother died at 41 without a confirmed diagnosis of cardiomyopathy. The twin daughters of the proband had no unequivocal signs of cardiomyopathy at the age of 21 years. Early recognition of this syndrome is important because of the possible development of heart block.