Table 1.

Overview comparing myotonic dystrophies with selected nuclear envelope- and DNA repair- linked progeroid syndromes.

Disease	Type	Gene	Age of onset	Age of death	Skin	Bones	Eyes	Muscle /Fat	Developmental delay	Neuro-degeneration	Diabetes mellitus	Hair	Cancer
Myotonic Dystrophy type 1 (DM1)	Mild	DMPK	20–70 yrs	60 yrs–normal	dysplastic nevi, alopecia, xerosis and seborrheic dermatitis		cataracts	myotonia	no		diabetes mellitus	alopecia	possibly increased risk
	Classic		10–30 yrs	48–55 yrs	dysplastic nevi, alopecia, xerosis and seborrheic dermatitis		cataracts	myotonia, muscular dystrophy	no	axonal peripheral neuropathy, CNS involvment	diabetes mellitus	alopecia	possibly increased risk
	Congenital		Birth to 10 yrs	Neonatal / 45 yrs	dysplastic nevi, alopecia, xerosis and seborrheic dermatitis		cataracts	muscular dystrophy	yes	yes	diabetes mellitus		possibly increased risk
Myotonic Dystrophy type 2 (DM2)		CNBP	3rd decade	Sudden death due to cardiac involvement possible	dysplastic nevi, alopecia, xerosis and seborrheic dermatitis		cataracts	myotonia, muscular dystrophy	no	in a few cases	diabetes mellitus	rarely alopecia	possibly increased risk
Hutchinson-Gilford progeria syndrome (HGPS)		LMNA	1–2 yrs	14 yrs	scleroderma-like	osteolysis	no	partial lipodystrophy	yes	no	diabetes mellitus	loss	no increased risk
Mandibuloacral dysplasia (MAD)	MADA	LMNA	4-5 yrs	normal life expectancy	skin atrophy, calcinosis	osteolysis	no	partial lipodystrophy	yes	no	diabetes mellitus	alopecia	no increased risk
	MADB	ZMPSTE24	2 yrs		skin atrophy	osteolysis	no	generalized lipodystrophy	yes	no	diabetes mellitus	alopecia	no increased risk
Restrictive dermopathy (RD)		ZMPSTE24	Antenatal, Neonatal	mean age of 13.5 years	hyperkeratosis		hypertelorism, entropion	no	yes			absent/spare eyebrows, -lashes, lanugo	no increased risk
Malouf syndrome		LMNA	Infancy, neonatal	18-26 yrs	no	osteoporosis	ptosis	lipodystrophy	no	mental retardation (some patients)	no	no	no increased risk
Nestor-Guillermo progeria syndrome (NGPS)		BANF1	2 yrs	Third decade of life	dry, atrophic	osteoporosis, osteolysis	propotosis	generalized lipoatrophy	yes	no	no	loss	no increased risk
Werner syndrome		WRN	Median age 13 yrs	Median age of 54	scleroderma-like	osteoporosis	cataracts	Muscle atrophy	yes	brain atrophy in 40%	diabetes mellitus	loss, premature greying	increased risk
Bloom syndrome		BLM	birth	Median age 27	photosensitivity, pigmentation abnormalities	no	no	no	yes	mild retardation, learning disability (some patients)	non-insulin-dependent diabetes mellitus	hypertrichosis	increased risk
Cockayne syndrome (CS)	CSA	ERCC8	1 yr	12 yrs	photosensivity, wrikeled and premature aged		cataracts, pigmentary retinopathy	denervation myopathy	yes	intellectual disability	diabetes mellitus	thin, dry and premature greying	no increased risk
	CSB	ERCC6	birth	7 yrs						severe mental retardation