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Table 1 Clinical comparison of muscular phenotypes caused by LMNA mutations. Emery-Dreifuss Muscular Dystrophy (EDMD), Congenital Muscular Dystrophy (L-CMD), Limb-Girdle Muscular Dystrophy 1B (LGMD1B). Adapted from Helbling-Leclerc et al. [18] and Maggi et al. [113]

From: Nuclear envelopathies: a complex LINC between nuclear envelope and pathology

Age of onset EDMD-2 LGMD1B L-CMD
2nd to 3rd decade 3rd to 4th decade Congenital onset
Weakness Scapulo-humero-peroneal distribution Girdles: Pelvic and scapular, symmetrical Axial or severe and diffuse
Contractures Elbow +++ + +
(spine, hips, knees and Achilles tendons)
Heart phenotype Invariable with age, after skeletal muscle involvements
Cardiac conduction defects +/− dilated cardiomyopathy
Invariable with age Cardiac conduction abnormalities
Respiratory abnormalities Rare Rare Very frequent
Loss of independent walking Late but rare Late but rare Very frequent
Axial involvement Frequent Rare Frequent
Scoliosis Frequent Rare Frequent
Rigid Spine Frequent Rare Frequent
Dysphagia Very rare Very rare Very rare
Facial weakness Rare Very rare Rare