A genetic analysis carried out in 250 people with Steinert’s disease (DM1) and who participated in the OPTIMISTIC study showed that 21 of them had variant triplets (CCG or CGG most often) interrupting the repeats of CTG triplets of the DMPK gene, involved in DM1.
This phenomenon is associated with a lower severity of the disease in terms of mobility, cardiac and respiratory involvement and a later onset.
Among these 21 patients, 9 received cognitive behavioral therapy (CBT) and 12 were in the control group. Their response to this therapy was identical to that seen among all trial participants, suggesting that the presence of variant triplets does not affect the response to CBT.
