Emery-Dreifuss Muscular Dystrophy: Disease Spectrum and Differential Diagnosis

Abstract

We report six patients with Emery-Dreifuss muscular dystrophy (EDMD) and four patients including one female with EDMD phenotype (EDMDP). This series includes one sporadic case who had previously been reported in this journal under the diagnosis of "rigid spine syndrome" in 1977. Time of observation ranged from three to ten years. Detailed cardiological assessment was performed in all patients, skeletal muscle biopsies were obtained from 9 out of 10 and cardiac muscle biopsies from 2 out of 10 patients. One patient showed evidence of cardiomyopathy in the absence of clinically apparent neuromuscular disease and one sibling of another EDMD patient reportedly had a similar combination of symptoms which, to our knowledge, has not yet been reported. Cardiac involvement was found to consist of four independent, albeit often combined features: 1) impairment of impulse generating cells; 2) conduction defects with atrial preponderance; 3) increased atrial and ventricular heterotopia; and 4) functional impairment of ventricular myocardium. Ventricular involvement as apparent from ventricular heterotopia, abnormal enddiastolic diameter, decrease of contractility and/or morphological evidence of ventricular myocardial disease was found in 7 out of 10 patients and confirmed by myocardial histopathology in two EDMD patients. In one myocardial biopsy extensive accumulations of intermediate filaments were observed, a rare finding, which has not been linked to EDMD before. Skeletal muscle biopsies showed evidence of myopathy throughout but several equivocal features such as fibre type grouping in EDMD and fibre type disproportion in EDMDP were also observed. The variability of clinical manifestation of both cardiac and neuromuscular disease encompassed a broader spectrum than apparent from the literature. The consequences for the inherent differential diagnosis are discussed.

Expression of growth associated protein 43 and neural cell adhesion molecule in congenital fibre type disproportion with interstitial myositis

“…However because of the clinical picture, especially atrophic paresis together with contractures, and myopathological signs of degeneration we considered the differential diagnosis of a sporadic case of Emery-Dreifuss muscular dystrophy (EDMD) [19]. The feature of fiber type disproportion was previously described in EDMD [10,21,29,30]. In this context the presence of CD4-and CD8-positive peri-and endomysial inflammatory cells may represent a non-specific concomitant inflammatory phenomenon.…”

“…Otherwise we only found sparse degenerative changes without signs of regeneration in the biopsy. Furthermore, clinical signs of cardiopathy, usually a feature of EDMD [30] were not found, thus the differential diagnosis of EDMD in our case is unlikely. Considering all clinical and myopathological data we made the diagnosis of CFTD together with the unusual finding of interstitial myositis inducing some myopathic changes like central nuclei and necrotic fibres.…”

Muscular dystrophies and the heart: The emerging role of cardiovascular magnetic resonance imaging

“…LV dysfunction and atrial paralysis can also be observed (46,47). Sudden death is common and highly unpredictable (48,49); therefore, pacemakers are often needed at 30 years of age (range 14 to 44 years) (50)(51)(52)(53).…”

The anesthetic management of a patient with Emery-Dreifuss muscular dystrophy for orthopedic surgery

“…5 Asymptomatic patients often show low amplitude P waves and first degree heartblock. These changes may progress to atrial fibrillation.…”