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Rare Genetic Diseases: Causes, Symptoms & Treatments
Some genetic diseases are passed down from parents to children and are called inherited genetic diseases. These include conditions such as cystic fibrosis, sickle cell disease, Tay-Sachs disease, thalassemia and hemophilia. Rare genetic diseases are violations of function in one or more of our genes, leading to physical and mental impairment.
What are Some Causes of Rare Genetic Diseases?
Inherited genetic mutations or changes in DNA sequence are responsible for some rare genetic diseases. Mutations can also occur randomly in the gene pool and remain in the individual, or they may result from environmental exposure to radiation, viruses, drugs, or other toxic substances.
What are Some Symptoms of Rare Genetic Diseases?
The symptoms of rare genetic diseases vary, depending on the type of disorder, and can range from mild to severe. Common symptoms may include physical deformities such as webbed toes or fingers, intellectual disabilities, seizures, muscle weakness, deafness and blindness, as well as developmental delays and behavioral issues.
Treatment of Rare Genetic Diseases
Treatments for rare genetic diseases vary, depending on the specific disorder and how it affects the individual. Some common treatments include physical and occupational therapy, medications, diet modifications, gene therapy and surgery.
Health
It is important for those with rare genetic diseases to seek proper medical care to ensure that their condition is managed in the best way possible. In addition, individuals should avoid environmental exposures or other harmful substances that may increase their risk of developing a genetic disorder. A healthy lifestyle, full of nutritious foods and regular physical activity, as well as stress management techniques can also go a long way in helping a rare genetic disease.