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 |