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Usually genetic disorders are caused due to mutations taking place within genes.
However, the disorders can also be caused if a portion or all of a gene is deleted, there is an additional part or whole of the gene added or if there are aberrations in the chromosomes. Even today, with science making so much progress, there is no way of controlling or stopping genetic disorders. In fact, there are no known cures for the various types of genetic disorders.
Here is a list of some genetic disorders:
- Angelman syndrome is named after Dr. Angelman, who first described the syndrome way back in 1965. The syndrome causes delay in intellectual development, problems in speech, sleep and hands, and the person keeps laughing or smiling portraying a happy outlook.
- Canavan disease is a genetic disorder that causes slow damage to the nerve cells present in the brain.
- Celiac disease is an autoimmune genetic disorder that affects the small bowel. It can manifest at any age, but the first symptoms of the disease usually are present during infancy.
- Charcot-Marie-Tooth disease affects the nerves and thereby there is a loss of touch sensation and muscle tissue of the legs, feet, arms and hands.
- Color blindness, as the name suggests, is the inability to differentiate colors. However, this disorder can also be caused due to damage to the brain, eye or certain nerves. In addition, certain toxic chemical products can lead to color blindness.
- Cri du Chat is a rare disorder and causes problems in the nervous system and larynx. However, around one-third of the infants afflicted by this genetic disorder show recovery by the age of 2 years.
- Cystic fibrosis is a progressive genetic disorder that causes disability and ultimately leads to death.
- Down syndrome is a disorder that causes problems with the facial features, cognitive abilities and physical development. While tests are available to detect the disorder while the woman is pregnant, many times this disorder is found only when the child is born.
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