Autosomal dominant disorder is a genetic condition characterized by the inheritance of a defective gene located on one of the autosomal chromosomes in a dominant manner. The autosomal chromosomes (numbered 1-22) are the non-sex chromosomes that determine the inheritance of genetic traits unrelated to sex.
In an autosomal dominant disorder, the presence of a single copy of the defective gene inherited from one parent is sufficient to express the disorder, overriding the presence of a normal gene from the other parent. This means that an affected individual with an autosomal dominant disorder has a 50% chance of passing on the disorder to each of their offspring.
The manifestation and severity of autosomal dominant disorders can vary widely, as they can affect different bodily systems and have different effects on individual quality of life. Examples of autosomal dominant disorders include Huntington's disease, Marfan syndrome, and neurofibromatosis.
Due to the dominant nature of these disorders, affected individuals often exhibit symptoms even if only one parent carries the defective gene. However, it is also possible for de novo mutations to occur, resulting in the development of autosomal dominant disorders in individuals with no family history of the condition.
Autosomal dominant disorders can be diagnosed through genetic testing, which examines the presence or absence of the defective gene associated with the disorder. Treatment options for autosomal dominant disorders primarily focus on managing symptoms, providing support, and preventing complications to improve the affected individual's overall quality of life.
