Congenital myotonic dystrophy is a rare genetic disorder that manifests itself since birth. It causes strong muscular weakness and difficulty breathing, requiring resuscitation at birth. If the newborn survives, the disease leads to delays in psychomotor development and alterations in cognitive development.
It is easy to confuse congenital myotonic dystrophy with other muscular illnesses. Diagnosis requires neurological examination, followed by electromyography and genetic testing. With electromyography, the physician evaluates the muscular electrical activity so as to detect possible myotonic discharges as a symptom of the disease. Subsequently, a genetic test is carried out, which quantifies triplet CTGs in the DMPK gene.
In healthy people, triplets are 5-34. Those with 37-50 triplets are healthy carriers of the disease and can transmit it to their children. Above 50 triplets the disease begins to manifest, with increasingly severe symptoms as repetitions increase. Some subjects even have more than 1000 repetitions.
For the time being, prenatal diagnosis is possible through the biorhythm of corial or amniocentesis. If the test is successful, it is advisable to request the support of a specialized center. This way the doctors can intervene right from the moment of delivery. Medical support is also essential if the mother is suffering from the disease. A weak uterine muscle weakness makes delivery more difficult and exposes the risk of hemorrhage.