Causes and risk factors
The disease is transmitted in an autosomal dominant way: a sick parent has a 50% chance of transmitting the disease to every child, regardless of gender. These are the so-called nucleotide expansion diseases, CTG of the DMPK gene for type 1 diabetes and CCTG of the ZNF9 gene for type 2 diabetes, to cover thousands of triplets: the more extensive this repetition, the more severe the disease. The disease is also characterized by the so-called expectation phenomenon, in which it tends to worsen and appear earlier during the transition from one generation to the next.
How is it diagnosed?
A suspicion of a diagnosis is formulated on the basis of clinical observation: confirmation is given by electromyographic research and, above all, by genetic analysis. An antenatal diagnosis can be made.
How is it treated?
There is no definitive therapy at this time. However, it is possible to intervene in a complex manner using various types of therapy (cardiological, endocrinological, respiratory, orthopedic, physiotherapy, etc.) to improve the quality of life. In particular, periodic cardiac check-ups allow early detection of the onset of cardiac arrhythmias and prevent sudden death by implanting a pacemaker or defibrillator. Some muscle relaxants can also reduce myotonic effects.