Genetic disorders are conditions that arise from mutations in DNA or changes in the number/structure of chromosomes and are usually inherited from parents. Common examples include Down syndrome, cystic fibrosis, sickle cell disease, hemophilia, Huntington's disease, and DMD (the muscular dystrophy). These disorders can range from mild symptoms to serious and life-threatening conditions, and early diagnosis and appropriate treatment can significantly improve quality of life.

Types of Genetic Disorders

Genetic disorders are classified into three main categories:

Monogenous disorders:

Resulting from a mutation in the DNA of only one gene. Examples include cystic fibrosis, sickle cell disease, and hemophilia.

Multigene disorders:

Resulting from mutations in more than one gene. Schizophrenia, autism, and some types of cancer may fall into this group.

Chromosomal disorders:

Occurs when there is an abnormality in the number or structure of chromosomes. Down syndrome is an example of this condition.

Examples of common genetic disorders

Down syndrome: A condition caused by an extra chromosome (chromosome 21).

Cystic fibrosis: A hereditary disease that affects the lungs and digestive system.

Sickle cell disease: A blood disorder that affects the shape of red blood cells.

Hemophilia: A bleeding disorder caused by a deficiency of proteins that help blood clot.

Huntington's disease: A neurological disorder.

Duchenne Muscular Dystrophy: A progressive muscle weakness affecting the muscles.

Phenylketonuria (PKU): A disorder that causes difficulty processing phenylalanine, found in some foods.

When do genetic disorders appear?

Genetic disorders can appear before birth, during birth, or later in life. While some symptoms may be milder, others can lead to serious health problems.