The genes in your body, medically known as your DNA (deoxyribonucleic acid) play a vital role in your body as it determines your characteristic traits. According to MedlinePlus, a genetic disorder occurs when there is a mutation in your genes. Sometimes, you inherit these defective genes and in other cases, the gene alteration is due to the environment. Unfortunately, some genetic alterations occur spontaneously and are outside of your control.
Phenylketonuria
Phenylketonuria is a genetic condition in which you are unable to metabolize phenylalanine, an amino acid found in certain foods. This condition is caused when the gene that produces phenylalanine is altered. Phenylketonuria manifestations include mental retardation, hyperactivity, stunted growth, a small head and a musty odor that exudes from the skin, breath or urine. The Mayo Clinic says that adhering to a strict phenylalanine-free diet is the first line of treatment. An affected person should avoid fish, milk, eggs, beans, nuts, cheese and peas as the breakdown products of these foods result in phenylalanine. Additionally, sapropterin is a medication that can be used in combination with a phenylketonuria diet.
Progeria
Progeria is a genetic condition that accelerates aging in children. According to MedlinePlus, progeria's cause is a mutation in the gene that is supposed to produce protein lamin A. Physical manifestations of progeria include failure of a child to grow during the first year, baldness, a narrow and wrinkled face and a small jaw. Progeria can also cause baldness, dry skin, absent teeth and problems moving. Unfortunately, there is no current treatment for progeria. MedlinePlus says that the average child suffering with progeria lives up until their teen years. However, some people can live until they are 30 years old. Typically, progeria sufferers die from a heart attack (myocardial infarction) or stroke (cerebrovascular accident).
Huntington's Disease
Huntington's disease is another inherited disorder that leads to nerve cell deterioration in your brain. The Mayo Clinic says that symptoms of Huntington's disease include clumsiness, changes in your personality, unsteadiness and involuntary facial and body movements. You can also develop trouble swallowing (dysphagia), slurred speech and tremors. Treatment of Huntington's disease include medications such as tetrabenazine. It decreases the sudden involuntary facial and body movements. Fluoxetine can also treat depression while clonazepam or haloperidol can treat hallucinations and also manage involuntary body movements. Physical therapy and speech therapy are additional treatments available to Huntington's disease sufferers.
