Diagnosis of Huntington's Disease

Upon visiting a certified medical practitioner, a routine examination is carried out. The physician looks into the past and present history of the patient and notes any changes in behavior or thinking. The family's medical history is also traced to locate the presence of any individual who might have had Huntington's disease. If required, the physician might also ask for the services of a psychiatrist, to gauge the extent of progression of Huntington's disease.

Tests that may be ordered to look into the brain tissue include a computer tomography (CT) scan or a magnetic resonance imaging (MRI) scan. This also helps to rule out any other issues of the brain and confirm the onset of Huntington's disease.

For individuals who have a history of Huntington's disease, genetic testing can be done to identify if the person has acquired the faulty gene. Samples of his blood are taken and the DNA is extracted and looked into. It reveals the chromosome strands and presence of the abnormal huntingtin protein, if any.

While a woman is pregnant and into her 11th week of carrying the fetus, genetic tests can be carried out to ascertain whether the faulty gene has been replicated. Following the genetic test, genetic counseling can go a long way in helping them embark on future plans. Some couples are also advised to go in for in-vitro fertilization procedures. Here again, genetic testing is carried out to find out if the faulty gene has been transferred to the fetus. The fertilized egg is implanted in the uterus only if the gene is not faulty. IVF can help in replication of the healthy gene in the future generations.