Steinert's disease, also called "myotonic dystrophy" is a hereditary disease. It causes progressive muscle degeneration, which makes it part of the family of diseases of muscular dystrophy. The severity of the disease is variable, ranging from minimal discomfort to severe disability, and can occur in newborns as well as adults. Steinert's disease affects all muscles of the body including those of the respiratory tract, the cardiovascular system, the eyes, the nervous system, the arteries and the endocrine system, which is responsible for the secretion of hormones. The symptoms will be very different depending on the predominance of attacks.
The symptoms of myotonic dystrophy are:
- muscle weakness;
- muscle atrophy;
- hypotonia, or weak muscle tone.
They may also be:
- bilateral cataracts;
- cardiac abnormalities, including conduction disorders;
- respiratory disorders;
- sleeping disorders;
- a mental retardation of variable intensity.
In suspected cases of myotonic dystrophy, an analysis of a blood sample can identify the disease. However, due to the strong impact of the diagnosis on the life of the individual and his family, including his children and potentially his siblings, genetic testing should also be done. Steinert's disease is a genetically transmitted dominant disease, i.e. a child with an affected parent has a 50% chance of being affected. A prenatal diagnosis can be made through a biopsy. The detection of genetic abnormalities in embryos conceived after in vitro fertilization
is also possible.
Steinert's disease is not curable, but the patient should be regularly monitored for muscular, cardiac, respiratory and endocrine balance.
Original article published by
. Translated by Jeff