Emery‐Dreifuss syndrome in three generations of females, including identical twins

Abstract

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.

Nuclear Lamins: Laminopathies and Their Role in Premature Ageing

“…B) THE AUTOSOMAL DOMINANT EDMD (AD-EDMD). During the 1970s and the 1980s, several authors reported families where the EDMD phenotype appeared to be transmitted as an autosomal trait (54,259,288,317,329,400). This was confirmed soon after the identification of the emerin defect in the XL-EDMD.…”

Three familial cases presenting with an immobile spine. Rigid spine or Emery‐Dreifuss syndrome?

“…in limb girdle and trunk muscles, leading to progressive rigid scoliosis with pulmonary restrictive symptoms (Dubowitz 1973). Xlinked Emery-Dreifuss muscular dystrophy shows a humeroperoneal distribution pattern, in contrast to humeropelvic weakness in the autosomal dominant form as in our family (Fenichel et al 1982, Miller et al 1985, Orstavik et al 1990). However, there seems to be a substantial overlap.…”

“…However, there seems to be a substantial overlap. Severe spinal rigidity and cardiac involvement were reported repeatedly in Hauptmann-Thannhauser syndrome (Miller et al 1985, Orstavik et al 1990). Bethlem myopathy is an early-onset autosomal dominant myopathy presenting with contractures (Bethlem & van Wijngaarden 1976).…”

“…Obviously, selective atrophy of type I-fibers is not specific for the rigid spine syndrome. In autosomal dominant Emery-Dreifuss syndrome myopathic changes (Fenichel et al 1982), fiber-type disproportion (Orstavik et al 1990), and mosaic patterns of fiber types with atrophic type 1 and hypertrophic type 2 fibers were observed (Goebel et al 1977), indicating heterogeneity of histologic alterations. The absence of rods in electron microscopic studies of the muscle biopsy in our patient excluded nemaline myopathy, in which a rigid spine has been reported (Topaloglu et al 1994).…”

“…Autosomal dominant inheritance is far more likely. Few reports exist on this variant of the Emery-Dreifuss syndrome, which is also called the Hauptmann-Thannhauser syndrome (Becker 1986, Fenichel et al 1982, Miller et al 1985, Orstavik et al 1990).…”