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A summary of the clinical phenotype and CTG repeat length in myotonic dystrophy type 1

Phenotype	Clinical signs	CTG repeat size	Age of onset (years)	Age of death (years)
Premutation	None	35 to 49	N/A	N/A
Mild	Cataracts, mild myotonia	50 to 150	20 to 70	Normal life span
Classical	Muscle weakness with respiratory failure, myotonia, cataracts, cardiac arrhythmias, EDS	50 to 1000	10 to 30	48 to 60
Childhood onset	Psychosocial problems, low IQ, incontinence	>800	1 to 10	N/A
Congenital	Infantile hypotonia, respiratory failure, learning disability, feeding difficulty	>1000	Birth	45 (neonatal deaths not included)

This table demonstrates the correlation between type of myotonic dystrophy type 1, clinical features, CTG repeat size, age of onset, and death. The correlation of age of onset with CTG repeat size is modest when the expansion size is measured in leucocyte DNA.

EDS: excessive daytime sleepiness; IQ: intelligence quotient; N/A: not available; DNA: deoxyribonucleic acid.

From: Turner C, Hilton-Jones D. Myotonic dystrophy: diagnosis, management and new therapies. Curr Opin Neurol 2014; 27:599. DOI: 10.1097/WCO.0000000000000128. Copyright © 2014. Reproduced with permission from Wolters Kluwer Health. Unauthorized reproduction of this material is prohibited.

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