Management
There is currently no cure for or treatment specific to myotonic dystrophy. Management is focused on the complications of the disease, particularly those related to the lungs and heart, which are life-threatening. Complications relating to the cardiopulmonary system account for 70% of deaths due to DM1. Compromised lung function can, in turn, contribute to life-threatening complications during anesthesia and pregnancy.Lung complications are the leading cause of death in DM1, warranting lung function monitoring with pulmonary function tests every 6 months. Central sleep apnea or obstructive sleep apnea may cause excessive daytime sleepiness, and these individuals should undergo a sleep study. Non-invasive ventilation may be offered if there is an abnormality. Otherwise, there is evidence for the use of modafinil as a central nervous system stimulant, although a Cochrane review has described the evidence thus far as inconclusive.Cardiac complications are the second leading cause of death in DM1, and commonly no symptoms are present prior to adverse events. All affected individuals are advised to have an annual or biennial ECG. Pacemaker insertion may be required for individuals with cardiac conduction abnormalities. Improving the quality of life which can be measured using specific questionnaires is also a main objective of the medical care. Physical activity
There is a lack of high-quality evidence to determine the effectiveness and the safety of physical activities for people who have myotonic dystrophy.
Research directions
Altered splicing of the muscle-specific chloride channel 1 (ClC-1) has been shown to cause the myotonic phenotype of DM1 and is reversible in mouse models using Morpholino antisense to modify splicing of ClC-1 mRNA.Some small studies have suggested that imipramine, clomipramine and taurine may be useful in the treatment of myotonia. However, due to the weak evidence and potential side effects such as cardiac arrhythmias, these treatments are rarely used. A recent study in December 2015 showed that a common FDA approved antibiotic, Erythromycin reduced myotonia in mice. Human studies are planned for erythromycin. Erythromycin has been used successfully in patients with gastric issues. References
External links
Myotonic dystrophy at Curlie