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Detection of Huntington's Disease

Huntington's disease or HD is a genetic disorder that leads to degeneration of brain cells. Initially the basal ganglia, located at the core center of the brain are affected. Since this part of the brain helps coordinate movements, its degeneration will lead to uncontrolled movements. Irritable moods are also experienced. In the advanced stages of the disease when the brain's outer layer or cortex is affected, loss of intellectual abilities occurs, eventually leading to death.

  1. Is Presymptomatic Detection Possible?

    • Huntington's disease is an inherited progressive disorder. The HD gene is sited in chromosome 4. This means that a parent suffering from this disorder can pass it to his children through the HD genes. In fact each offspring of such a parent has a 50 percent chance of acquiring the HD gene. This genetic disorder can be presymptomatically detected by undergoing genetic testing if you are a blood relative of a person diagnosed with this disorder.

    How is Presymptomatic Detection Done?

    • Genetic testing of a person's DNA to detect Huntington's disease even before he shows symptoms can be performed on his blood samples at an HD testing center. Whether to undergo such a test is a personal decision. It is better to take pre-test and after test counseling as the positive outcomes of the test have been observed to cause feelings of depression and disappointment. Clinicians do not support testing of minors who are at the risk of contracting this disorder. Results are to be kept confidential. However, the presymptomatic genetic testing for HD when conducted prior to pregnancy can help in making important decisions on whether to reproduce. Pre-natal testing procedures can help determine the presence of the HD gene in a fetus.

    Detection on the Basis of Symptoms

    • The early symptoms of the Huntington's disease include subtle tics and twitches, unexplainable mood variations, irritability, depression, becoming clumsy as well as slow and slurring speech. These symptoms indicate that the brain cells are in the initial stages of deterioration by the HD disorder. Physical and neurological examination can help detect HD. A person showing clear HD symptoms and having a clear documented family-history of the disorder is offered a confirmatory genetic testing.

    Detection When Family History of HD is Unknown

    • For persons showing symptoms of HD, but not having a clear family history of the disease, genetic testing will have to be performed on a blood sample to see if distinct mutation of the IT-15 gene for HD has taken place. DNA of the parent is also tested.

    Other Helpful Diagnostic Tools

    • CT scans or computed tomography is a painless procedure that involves generating the internal image of the brain using computers. These scans can reveal shrinkage of the brain's putamen and caudate nuclei as well as enlargement of ventricles or brain cavities which are common in persons with HD. These scan results are not conclusive. MRI or Magnetic-resonance-imaging and PET Scans or positron-emission-tomography are other diagnostic tools for HD.

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