My Health Digest
A genetic disorder is a disease that is caused by a change, or mutation, in an individual’s DNA sequence.
These mutations can be due to an error in DNA replication or due to environmental factors, such as cigarette smoke and exposure to radiation, which cause changes in the DNA sequence.
when a section of our DNA is changed in some way, the protein it codes for is also affected and may no longer be able to carry out its normal function.
Depending on where these mutations occur, they can have little or no effect, or may profoundly alter the biology of cells in our body, resulting in a genetic disorder.
For example: Dominant diseases
A doctor may suspect a diagnosis of a genetic condition on the basis of a person’s physical characteristics and family history, or on the results of a screening test.
Genetic testing is one of several tools that doctors use to diagnose genetic conditions. The approaches to making a genetic diagnosis include:
Genetic testing is currently available for many genetic conditions. However, some conditions do not have a genetic test; either the genetic cause of the condition is unknown or a test has not yet been developed.
A diagnosis of a genetic disorder can be made anytime during life, from before birth to old age, depending on when the features of the condition appear and the availability of testing.
Sometimes, having a diagnosis can guide treatment and management decisions.
Most cannot be cured. However, approaches may be available to treat or manage some of the associated signs and symptoms.
For a group of genetic conditions called inborn errors of metabolism, treatments sometimes include dietary changes or replacement of the particular enzyme that is missing. Limiting certain substances in the diet can help, In some cases, enzyme replacement therapy can help compensate for the enzyme shortage.
These treatments are used to manage existing signs and symptoms and may help prevent future complications.
Bone marrow transplantation (BMT) is the only known treatment for a variety of genetic diseases sometimes called “inborn errors of metabolism” or “storage diseases.” These diseases are caused by a deficiency of a specific substance in the body, usually a protein, which results in the accumulation of toxic chemicals inside the cells.
Depending upon the protein abnormality and the chemicals that accumulate, specific patterns of tissue damage and organ failure occur, including:
The eventual organ damage and outcome of the different diseases is quite variable, although the ones in which BMT has been evaluated are those that have a naturally progressive downward course usually ending in death during childhood.
Despite this, most treatment options revolve around treating the symptoms of the disorders in an attempt to improve patient quality of life.
It was found that, before approximately age 25 years, greater than or equal to 53/1,000 live-born individuals can be expected to have diseases with an important genetic component.