Huntington’s Disease, also known as HD, is a genetic disorder that causes the progressive breakdown of nerve cells in the brain and is considered fatal. It affects the entire brain, but some areas are more vulnerable than others. HD is an inherited neurological disorder passed down from generation to generation in families. HD causes deterioration in an individual’s physical, mental and emotional abilities with symptoms occurring during their prime working years.
The cause of Huntington’s Disease is a single defective gene on chromosome 4 known as huntingtin. This gene is one of 23 human chromosomes that carry an individual’s entire genetic code. Everyone carries the huntingtin gene; however, only those individuals that inherit the defective gene (HD mutation) will develop HD. The defect on the huntingtin gene is dominant which means that everyone who inherits the gene from a parent with Huntington’s Disease will eventually also develop HD. Children with parents diagnosed with HD have a 50/50 chance of inheriting the HD mutation.
Individuals can do a diagnostic genetic test which can confirm that the HD mutation is the cause of symptoms in individuals with suspected Huntington’s Disease. The test can also detect the HD mutation in individuals who have not yet started showing symptoms, but have a parent with HD.
Symptoms vary between each individual diagnosed with Huntington’s Disease and typically start developing during adulthood, between the ages of 30 to 50. HD can also occur in children and young adults and is known as juvenile HD or JHD. Symptoms can include:
The symptom known as the hallmark symptom of Huntington’s Disease is uncontrolled movement of the arms, legs, head, face and upper body.
Huntington’s Disease currently does not have a cure or treatment which can stop, slow or reverse the progression of the disease. There are a variety of treatments and interventions that focus on managing HD symptoms. Some examples include medications to ease anxiety of depression, help with troublesome behaviors, and calm uncontrolled movements.
At Roseman Medical Group (RMG), we have expert neurologists dedicated to treating Huntington’s Disease. Our neurologists provide empathic, patient-centered, evidence-based care. If you have a friend or family member who suffers from Huntington’s Disease, let RMG’s expert neurologists help! Contact us today!
This article was originally posted on Roseman University of Health Sciences’ blog, as well as published in the May/June edition of Roseman University’s print edition