Emery–Dreifuss muscular dystrophy

Joint contractures, humeroperoneal muscle weakness, and cardiac disease define the EDMD spectrum. Joint contractures typically present in the first decade of life, most often between five and ten years of age, and may precede or follow the onset of muscle weakness; the elbows, ankles, and posterior cervical muscles are most affected, with neck-flexion limitation followed by restricted spinal mobility. Muscle weakness and wasting are bilateral and approximately symmetric, initially involving the humeral (biceps and triceps) and peroneal compartments, and subsequently extending to the scapular, pelvic girdle, and axial muscles. Cardiac involvement usually emerges within the second to third decades and includes conduction defects (sinus bradycardia, atrioventricular blocks, atrial standstill, bundle branch blocks), atrial and ventricular arrhythmias, and dilated cardiomyopathy; sudden cardiac death may occur as the inaugural manifestation. Respiratory function may be impaired in some individuals, and inter- and intrafamilial variability in age of onset, severity, and progression is well documented.

The estimated prevalence is approximately 1.3-2 per 100,000. This composite estimate combines population-based prevalence of X-linked EDMD with the estimated proportion of X-linked cases among all EDMD.

EDMD is genetically heterogeneous, with pathogenic variants identified in genes encoding proteins of the nuclear envelope and its associated structures. LMNA-associated EDMD (striated-muscle laminopathy) is the most frequently identified cause. X-linked forms include EMD-related EDMD (emerin deficiency; classic triad) and FHL1-related EDMD (muscle hypertrophy with hypertrophic cardiomyopathy).

The genetic conditions associated with EDMD follow heterogeneous inheritance patterns. EDMD is inherited in an autosomal dominant, X-linked, or, rarely, autosomal recessive manner; autosomal dominant transmission is the most frequently observed mode.

• Where EDMD is suspected to have a genetic cause, molecular genetic testing can identify the underlying condition and confirm a clinical suspicion.
• The identified entity guides further clinical management and is a prerequisite for targeted medical care; therapeutic options are evaluated individually by the treating physicians.
• Identification of the underlying pathogenic germline variant enables predictive testing of at-risk family members and provides information relevant to family planning.

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• Granata LG, Lo Nigro MC, Cipolla F, Ferrara N, Napoli AR, Marchetta M, et al. Cardiac involvement in Emery-Dreifuss muscular dystrophy, from arrhythmias to heart failure and sudden death: a contemporary review. J Clin Med. 2026;15(9):3286. doi:10.3390/jcm15093286. PMID:; PMCID: PMC13163875.