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Genetic disorders range from single gene mutations to chromosomal abnormalities, and can be inherited or caused by environmental factors. They can be categorized into single gene inheritance, multifactorial inheritance, and mitochondrial inheritance. Genetic testing is available for diagnosis and ruling out certain conditions.
Typically, genetic disorders are caused by abnormalities in a person’s genome. This anomaly can be trivial or serious. They generally range from discrete mutations to gross chromosomal abnormalities. Some genetic disorders are inherited from parents, and other disorders are the result of mutations in a group of genes or in a single gene. The types of human genetic diseases can be divided into three categories: single gene inheritance, multifactorial inheritance, and mitochondrial inheritance.
Typically, mutations occur randomly or may be related to certain types of environmental exposure. Generally, genetic disorders caused by mutations in single genes include cystic fibrosis, Marfan syndrome and sickle cell anemia. These genetic disorders occur in approximately one of every 200 births and are referred to as monogenetic disorders. Cystic fibrosis is a genetic disease familiar to many. It is characterized by copious amounts of thick mucus that is difficult to cough up, resulting in an intractable cough.
Multifactorial inheritance conditions are caused by mutations in more than one gene. Furthermore, they can also be caused by environmental factors. Examples of these genetic disorders include heart disease, Alzheimer’s disease, and heart disease. Also, chronic diseases such as diabetes, cancer, and arthritis are examples of this type of ailment. Multifactorial inheritance disorders are also associated with inherited traits such as height, skin color, and eye color.
Generally, chromosomal abnormalities cause genetic disorders such as Turner syndrome, cri du chat syndrome, which translates to “cat crying,” and Klinefelter syndrome. These types of genetic disorders generally occur due to cell division problems. Down syndrome, for example, is a disorder that occurs due to the presence of three copies of chromosome 21. Another term that refers to Down syndrome is trisomy 21. Typically, Down syndrome is diagnosed when birth, however, it may be months before it becomes apparent.
Other types of genetic conditions include mitochondrial inheritance disorders. These conditions are caused by a mutation in the DNA of non-chromosomal mitochondria. Mitochondria refer to small organelles involved in the cellular respiration process and are found in the cytoplasm of plants as well as animal cells. Included in the list of mitochondrial diseases are myoclonic epilepsy, Leber optic atrophy, which is an eye disease, and mitochondrial encephalopathy, which is a type of dementia.
It is important to note that many of these conditions are rare, however, great progress has been made in research into the cause and treatment of these conditions. Typically, many large teaching hospitals have departments specifically devoted to genetics and related disorders. Genetic testing is available for people who may be seeking information about their genetic predisposition. Also, these tests can be useful in ruling out certain genetic conditions.
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