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Table I.

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 
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