Clinical Guidance

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of joint contractures, muscle weakness and wasting, and cardiac disease. Respiratory function may be impaired in some individuals. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability . Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, concomitantly followed by muscle weakness and wasting. In a large published series of affected individuals, found a range of onset of 10.1 ± 9.5 and 3.3 ± 2.

Diagnostic Criteria

Consensus clinical diagnostic criteria for Emery-Dreifuss muscular dystrophy (EDMD) have been published .

Suggestive Findings

EDMD should be suspected in probands with the following clinical, electrophysiologic, imaging, and laboratory findings and family history.

Clinical findings

• Age of onset is typically between age five and ten years, rarely before age five or after ten years.

Management Guidelines

For individuals with Emery-Dreifuss muscular dystrophy (EDMD) and cardiac involvement, risk stratification guidelines for primary prevention of sudden cardiac death have been reported for laminopathies including autosomal dominant and autosomal recessive LMNA-related EDMD [, , , ] and emerinopathies including EMD-related EDMD . For deficiencies resulting from skeletal muscle involvement, no specific clinical practice guidelines for EDMD have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder and reported literature.

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended in a multidisciplinary setting.

Table 7.

Emery-Dreifuss Muscular Dystrophy: Recommended Surveillance

System/Concern | Evaluation | Frequency

Musculoskeletal