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
Claims that alcohol consumption caused idiocy were also part of the Teetotalisms message in the 19th century, but such claims, despite some attempts to offer evidence, were ignored because no mechanism could be advanced.The earliest recorded observation of possible links between maternal alcohol use and fetal damage was made in 1899 by Dr. William Sullivan, a Liverpool prison physician who noted higher rates of stillbirth for 120 alcoholic female prisoners than their sober female relatives; he suggested the causal agent to be alcohol use. This contradicted the predominating belief at the time that heredity caused intellectual disability, poverty, and criminal behavior, which contemporary studies on the subjects usually concluded. A case study by Henry H. Goddard of the Kallikak family—popular in the early 1900s—represents this earlier perspective, though later researchers have suggested that the Kallikaks almost certainly had FAS. General studies and discussions on alcoholism throughout the mid-1900s were typically based on a heredity argument.Prior to fetal alcohol syndrome being specifically identified and named in 1973, only a few studies had noted differences between the children of mothers who used alcohol during pregnancy or breast-feeding and those who did not, and identified alcohol use as a possible contributing factor rather than heredity. Recognition as a syndrome
Fetal alcohol syndrome was named in 1973 by two dysmorphologists, Drs. Kenneth Lyons Jones and David Weyhe Smith of the University of Washington Medical School in Seattle, United States.