Myotonic dystrophy

The Optimistic trial has demonstrated a positive effect of cognitive behavioural therapy (CBT) on a number of clinical outcome measures for myotonic dystrophy type 1 (DM1). Here, we performed mRNA sequencing of full whole blood for 27 patients at baseline and after 10 months of CBT. We identified 110 genes that were both associated with a positive response to therapy and with disease severity, represented by the length of the disease-causative CTG-repeat. Strikingly, after CBT 109 out of these 110 genes changed towards levels seen in less severe patients and 103 of these genes showed the same trend in the reanalysis of an earlier study comparing blood samples of DM1 patients and controls.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research