01 | Introduction
Huntington’s Disease is an inherited disease that causes a degeneration of nerve cells in the brain. This breakdown of cells has a broad impact on the person’s functional abilities and usually results in movement, cognitive and psychiatric symptoms. Please use this guide to learn more about Huntington’s Disease, including the cause, symptoms, diagnosis and treatment.
02 | Cause
Huntington’s Disease is an autosomal dominant disorder, meaning that a person needs only one copy of the defective gene to develop the disease. A person inherits two copies of each gene, with the exception of the genes on the sex chromosomes. A parent with a defective gene could pass along the defective copy of the gene or the healthy copy, resulting in their children having a 50% chance of inheriting the gene.
03 | Symptoms
Huntington’s Disease causes a wide range of symptoms including movement, cognitive and psychiatric, and these can vary from patient to patient. They usually appear between the ages of 30 to 50. The most common symptoms include:
04 | Diagnosis
A preliminary diagnosis of Huntington’s Disease will be based on a thorough medical history, general physical exam and neurological and psychiatric examinations. The physician may also perform brain imaging tests (MRI and/or CT scan) and genetic testing.
05 | Treatment
Although there is no cure for Huntington’s Disease, treatment can lessen some of the movement and psychiatric symptoms. Medications may be prescribed to suppress the involuntary jerking movements, and psychotropic drugs can be used to treat the psychiatric component of the disease. Occupational and physical therapy can help improve functional abilities.
Care and Support
Due to the progressive nature of Huntington’s Disease, it is important for the patient and their caregivers to have a good support system in place to provide assistance. For more information on Huntington’s Disease, please visit: https://hdsa.org/
References:
https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/diagnosis-treatment/drc-20356122
https://hdsa.org/what-is-hd/overview-of-huntingtons-disease/
https://www.mdmag.com/medical-news/five-facts-about-huntingtons-disease