Huntington’s Disease: Causes, Symptoms & Treatments

Brain Mia Garnsey

How Is Huntington’s Disease Diagnosed

To diagnose HD, doctors use a combination of tests and other information to detect if a person has the illness. These include medical history, neurological and lab tests, genetic testing, and brain imaging.

Neurological exam and medical history: A neurologist will aim at ruling out other possible conditions and will conduct an in-depth interview to obtain the medical history (including any family history, called a pedigree or genealogy). The neurological and physical exam will review reflexes, balance, movement, muscle tone, hearing, walking, and mental status. If needed, you will be to specialists such as psychiatrists, genetic counselors, clinical neuropsychologists, or speech pathologists for specialized management and/or diagnostic clarification.
Diagnostic imaging: The doctor may occasionally advise brain imaging, such as computed tomography (CT) or, more frequently, magnetic resonance imaging (MRI), particularly if a patient’s family history and genetic testing are unconvincing. These scans often show the brain shrinking in certain areas as the disease advances and the ventricles, the brain’s fluid-filled chambers, growing larger. These alterations can occur in other conditions as well, thus HD is not always associated with them. A structural CT or MRI scan [2] can reveal early HD symptoms in a person while still showing normal results.
Genetic tests: Genetic testing can help confirm or rule out a suspected gene condition and also help determine a person’s chance of recovery. Genetic testing makes it possible to predict with a higher degree of certainty if someone will develop HD. Throes of genetic testing include:
- Direct genetic test
- Linkage testing
- Prenatal testing

Mia Garnsey July 11, 2023

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