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Genetic Disorders
What ar common genetic Disorders?
A genetic disease is a disorder that originates due to an alteration in a gene. There are miles of genetic diseases and more are being discovered every day.
Our body is made up of billions of cells and each cell contains a set of genes. Genes are the body's "instructions", which our body reads, to make the proteins that determine who we are. For example, there are genes for eye color and height.
Genes are inherited (passed down from parent to child); that is why we look like our parents.
There are several types of genetic diseases. How the disease is inherited can help determine the risks it will pose to the pregnancy and the risk of recurrence in subsequent children. The risks of having a baby with a birth defect due to a genetic abnormality may increase when:
The parents have another child with a genetic disease.
There is a family history of the genetic disease.
One parent has a chromosomal abnormality.
Abnormalities are detected in the fetus by ultrasound.
What are the causes of genetic disorders?
Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of genetic mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of whole chromosomes, the structures that carry genes).
What are genetic disorders?
A genetic disorder is a disease caused in part by a change in the DNA sequence outside the normal sequence.
In short, a genetic disorder is caused by an abnormality in one or more genes as well as chromosomes within the human body. Some of these disorders are inherited.
How are genetic disorders identified
Laboratory tests, including genetic tests: Molecular, chromosomal, and biochemical genetic or gene tests are used to demonstrate genetic disorders. Other laboratory tests that measure the levels of certain substances in the blood and urine can also help suggest a diagnosis.
A genetic disease is a disorder that originates due to an alteration in a gene. There are thousands of genetic diseases and more are being discovered every day. Our body is made up of billions of cells and each one contains a set of genes.
What are the symptoms of genetic disorders?
Down Syndrome
Down syndrome is characterized by a typical physical appearance, intellectual disability and developmental delays.
Cystic fibrosis
Symptoms can vary. They include cough, repeated lung infections
Huntington's disease
Huntington's disease usually causes progressive onset of psychiatric symptoms.
Duchenne muscular dystrophy
Symptoms include frequent falls, difficulty getting up or running, waddling gait
Sickle cell anemia
Some of the symptoms of sickle cell anemia include infections, pain and fatigue.
