Genetic diseases occur when there is a variation or alteration in a gene. Causes of genetic abnormalities include environmental, congenital and gene mutation within the cell that can occur at random. Inherited genetic diseases require a specific mutated gene pattern passed down from parent to child in order for the disease to develop. Some inherited genetic diseases pass through a family from one generation to the next as carriers, but without manifestation of the disease.
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Fragile X Syndrome
Fragile X syndrome, as reported by Genetics Home Reference, a service of the United States National Library of Medicine, is a genetic condition that manifests as developmental problems such as learning disabilities and mental retardation. Symptoms of fragile X include anxiety, excessive movement and acting on impulse. Fragile X affects males more severely than females, with about one-third of the males showing signs of autism. Other symptoms of fragile X include seizures and physical abnormalities such as a long and narrow face and large ears. No cure exists for fragile X. Treatment goals include therapy--physical, educational and behavioral--and medications to assist with control of aggression and behavioral abnormalities.
The University of Maryland Medical Centers reports that Gaucher disease is a rare genetic disorder characterized by the absence of the glucocerebrosidase enzyme. That causes a buildup of harmful substances in the body that affect the spleen, liver, bones and marrow. Type 1 Gaucher disease affects children and adults, and it manifests as anemia, bone disease and spleen enlargement. Type 2 causes severe neurological damage in infancy and quickly results in death. Type 3 symptoms include difficulties with the brain, spleen and liver, but affected patients may reach adulthood. Treatment includes enzyme replacement therapy and, for severe cases, bone marrow transplant.
Batten disease, a fatal genetic disorder, requires the defective gene from each parent in order for the child to develop it. Disabled World, an online disability and health news source, reports that Batten disease affects the nervous system, with early signs appearing as changes in the child's behavior and personality between the ages of 5 and 10. Mild changes progress to seizures and loss of vision and motor skills. Death occurs by late adolescence or the early twenties. Treatment includes symptom management such as medication for seizures, along with physical and occupational therapies.
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