Abnormality in the genes leads to many genetic disorders. Navigate through this piece to get to know more about the different types of genetic disorders.
Genetic disorders are caused by the abnormalities in the genes or chromosomes. A genetic disorder emerges when a person has more than one abnormal gene. Genes like ‘missing genes’, ‘extra genes’, ‘inactivated genes’, or overly active genes lead to genetic disorders. Genetic conditions can be passed from parents to their children by random genetic mutations that occur during the development of the embryo. Therefore, if a person erratically develops a genetic disorder, he or she can pass the genes to his or her child. In some cases, genetic disorders occur when amino acid structures that make genes are incorrectly copied leading to insensitive loss, additions, or replacements that cause the structure to mutate. When the gene is mutated, the proteins may not function properly, thus resulting in genetic disorders. There are 6,000 known genetic disorders. This article, however, deals with only some of the most significant genetic disorders. To learn more about them, read on.
Different Types Of Genetic Disorders
Alpers’ disease also known as alpers’ syndrome is a rare progressive neurological disorder that causes progressive deterioration of grey matter in the cerebrum. Result mental retardation, hypotonia (low muscle tone), spasticity, dementia, muscle jerks, etc.
Anophthalmia syndrome is a genetic disorder involving the abnormal development of the eyes and other parts of the body. Here, the individuals have no visible eyeballs; and have only remaining eye tissues. Individuals with this particular syndrome may also have brain abnormalities, slow growth, delayed motor skills, learning disability, etc.
Haemophilia belongs to the group of hereditary genetic disorders also known as bleeding disorders in which the blood just cannot coagulate. With clotting factor missing in the body, it takes a long time for the blood to clot after an injury or an accident. A patient suffering from haemophilia does not bleed very much when compared to a regular person. However, he or she can bleed for prolonged periods of time. In severe haemophiliacs, even a small wound can result in blood loss that lasts for days or weeks, or even in no way healing entirely.
Cystic Fibrosis Syndrome
Cystic fibrosis is a hereditary genetic disorder that affects the entire body leading to slow but sure disability and death. A low resistant system and thick mucus production lead to regular lungs infections, that can be treated, but not cured. It’s a disease that affects various glands and results in the secretion of thick mucus that blocks internal passages including those of the lungs, thus causing respiratory infections. Cystic fibrosis syndrome particularly affects the lungs and the digestive system.
Albinism is an inherited disorder in which there is minute or entirely no production of melanin in the hair, skin and iris of the eyes. For this reason, albinos (people suffering from albinism) have very light colored hair, eyes and skin. It is caused due to the inheritance of recessive alleles from the parents. There is no known cure for this malady, but the symptoms can be assuaged with the help of surgical intervention, vision aids and using devices that help protect the victim from the rays of the sun.
Progeria is a rare sickness that produces rapid aging that begins from childhood. Its symptoms robustly look like normal human aging, but crop up in little children. 90% of children languishing with progeria have a mutation on the gene that encodes the protein lamin A. This malady more often than not occurs without cause and is very infrequently seen in more than one child in a family.
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