Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy

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Abstract
Myotonic dystrophy (DM) is a multisystemic disease caused by the expansion of a CTG repeat, located in the 3′‐untranslated region of the DMPK gene. The number of CTG repeats broadly correlates with the overall severity of the disease. However, correlations between CTG repeat number and presence/absence or severity of individual clinical manifestations in the same patients are yet scarce. In this study the number of CTG repeats detected in blood cells of 24 DM subjects was correlated with the severity of single clinical manifestations. The presence/absence of muscular atrophy, respiratory insufficiency, cardiac abnormalities, diabetes, cataract, sleep disorders, sterility or hypogonadism is not related to the number of CTG repeats. Muscular atrophy and respiratory insufficiency are present with the highest frequency, occurring in 96 and 92% of the cases, respectively. A significant correlation was found with age of onset (r=−0.57, p<0.01), muscular disability (r=0.46, p<0.05), intellective quotient (r=−0.58, p<0.01) and short‐term memory (r=−0.59, p<0.01). Therefore, the CTG repeat number has a predictive value only in the case of some clinical manifestations, this suggesting that pathogenetic mechanisms of DM may differ depending on the tissue.