How is Huntington's disease (HD) diagnosed?

The requirements for the diagnosis of Huntington's disease (HD) include medical history, family history, neurological examination, brain imaging testing (including magnetic resonance imaging or MRI and computerized tomography or CT), laboratory tests, and genetic testing (when necessary).

Genetic testing - direct mutation analysis: HD is usually inherited as an autosomal dominant trait, meaning that each child of an affected parent has a 50% risk of inheriting the mutated gene for the disease. Those who do not inherit a copy of the disease gene (or have a spontaneous mutation in that gene) do not develop HD and cannot pass the disease trait on to future generations. Scientists discovered the gene for HD in 1993, called the IT15 gene. This discovery helped in the development of specialized testing that may help to confirm the diagnosis of HD in patients with an affected parent with the disease. During such testing, blood samples are taken from patients and DNA is directly analyzed for HD mutations.

Physical and neurological assessment: Although predictive genetic tests may indicate whether individuals carry the disease gene, these tests are not able to confirm the onset of the disorder. Therefore, the diagnosis of HD is also based on a thorough clinical evaluation including a complete physical and neurological assessment and detection of characteristic symptoms and findings (such as involuntary movements, emotional and behavioral disturbances, and progressive dementia). A careful patient and family history will also be taken. Neurological assessment may include testing to evaluate cognitive (brain thinking and memory) status, reflexes, balance, and movement, including evaluation of certain voluntary eye movements necessary in focusing on moving targets.

You should read product labels, and discuss all therapies with a qualified healthcare provider. Natural Standard information does not constitute medical advice, diagnosis, or treatment.