Learn more about the patterns, symptoms, diagnosis and treatments available for Genetic problems in CDM.
Learn more about the patterns, symptoms, diagnosis and treatments available for Genetic problems in DM2.
Learn more about the patterns, symptoms, diagnosis and treatments available for Genetic problems in DM1.
...Is it larger with maternal transmissions? Or is there an identical distribution between men and women?
Myotonic dystrophy is an inherited disease where a change, called a mutation, has occurred in a gene required for normal muscle function. The mutation prevents the gene from carrying out its function properly.
DNA is the genetic material found in the nucleus of nearly every cell. A gene is a stretch of DNA that carries a set of instructions on how a protein should be made. These proteins carry out the functions of the body. Scientists estimate that humans have about 25,000 different genes.
Both DM1 and DM2 are passed from parent to child by autosomal dominant mutations. This means that the faulty gene is located on one of the chromosomes that does not determine sex (autosome) and that one copy of the mutated gene is enough to cause the disease (dominant).
Studies have been done to understand how these non-coding mutations could have a trans-dominant effect (i.e. how they could affect other genes not associated with the mutation locus). This research suggests a gain-of-function RNA mechanism underlies the clinical features common to both diseases.
Myotonic dystrophy is one of the most complex disorders known. In addition to the incredible variability of clinical symptoms, the disease also has unique mechanistic features: