Diagnosis
A number of tests need to be carried out in order to diagnose Huntington’s disease, particularly during the early stages of the disease. The first step is to obtain a comprehensive overview of the family background: by taking the typical symptoms into account, an experienced neurologist/psychiatrist can usually suspect Huntington’s disease if a family member of the patient is known to have had it.
The neurological examination
A diagnosis can be made without the need for additional testing through clinical findings and an anamnesis. In most cases however, imaging techniques such as computed tomography and MRIs are used to make a final diagnosis.
The neuropsychological test
Neuropsychological tests that assess factors such as mental performance can be used to evaluate the severity of the disease. However, they tend to be unspecific.
Genetic testing
Since 1993, Huntington’s disease can be accurately diagnosed using a gene test that only needs a small blood sample from the patient. Even healthy persons who are at risk as a result of having a family member with Huntington’s disease can be tested to see whether or not they have inherited the gene.
Any individual who is considering genetic diagnosis should first seek professional support.