Classification and clinical phenotype of laminopathies
Laminopathies | Clinical manifestations |
Systemic | |
HGPS | Premature aging, hair loss, loss of subcutaneous fat, premature atherosclerosis, myocardial infarction, stroke |
Atypical Werner's syndrome | Premature aging, cataracts, scleroderma-like skin changes, premature atherosclerosis, hair graying |
Restrictive dermopathy | Intrauterine growth retardation, skin alterations, multiple joint contractures, skull defects |
MAD | Skull/face abnormalities, clavicular hypoplasia, joint contractures/lipodystrophy, alopecia, insulin resistance |
Tissue restricted | |
EDMD | Early contractures of the neck/elbows/Achilles tendons, muscle contractures, wasting of skeletal muscle, cardiomyopathy with conduction disturbance |
DCM | Ventricular dilatation, systolic dysfunction, arrhythmias, conduction defects |
Limb-girdle muscular dystrophy 1B | Slowly progressive shoulder and pelvic muscle weakness/wasting, contractures, cardiac defects |
Charcot-Marie-Tooth neuropathy type 2B1 | Axonal degeneration, lower-limb motor deficits, walking difficulty, secondary foot deformities, reduced/absent tendon reflexes starting in the second decade of life |
Dunningan-type FPLD | Dramatic absence of adipose tissue in the limbs/trunk and accumulation in the neck/face, hypertriglyceridemia, increased susceptibility to atherosclerosis/diabetes |
Laminopathies | Clinical manifestations |
Systemic | |
HGPS | Premature aging, hair loss, loss of subcutaneous fat, premature atherosclerosis, myocardial infarction, stroke |
Atypical Werner's syndrome | Premature aging, cataracts, scleroderma-like skin changes, premature atherosclerosis, hair graying |
Restrictive dermopathy | Intrauterine growth retardation, skin alterations, multiple joint contractures, skull defects |
MAD | Skull/face abnormalities, clavicular hypoplasia, joint contractures/lipodystrophy, alopecia, insulin resistance |
Tissue restricted | |
EDMD | Early contractures of the neck/elbows/Achilles tendons, muscle contractures, wasting of skeletal muscle, cardiomyopathy with conduction disturbance |
DCM | Ventricular dilatation, systolic dysfunction, arrhythmias, conduction defects |
Limb-girdle muscular dystrophy 1B | Slowly progressive shoulder and pelvic muscle weakness/wasting, contractures, cardiac defects |
Charcot-Marie-Tooth neuropathy type 2B1 | Axonal degeneration, lower-limb motor deficits, walking difficulty, secondary foot deformities, reduced/absent tendon reflexes starting in the second decade of life |
Dunningan-type FPLD | Dramatic absence of adipose tissue in the limbs/trunk and accumulation in the neck/face, hypertriglyceridemia, increased susceptibility to atherosclerosis/diabetes |