My mom passed away six months ago from Huntington’s disease. What information can you provide about this disease and should I get tested?
Huntington’s disease, a cause of dementia like Alzheimer’s, is a neurodegenerative genetic disorder that leads to cognitive decline, psychiatric problems and affects muscle coordination. The disease was formerly named Huntington’s chorea because it causes abnormal involuntary movements called “chorea.”
HD is caused by an abnormal copy of the huntingtin gene on chromosome 4, identified in 1993, that is passed from parent to child. Everyone has a gene that codes for huntingtin, which regularly interacts with proteins found only in the brain. Only an individual who is born with this abnormal huntingtin gene can get HD and pass it along to his/her children. Any child of an affected parent typically has a 50 percent chance of inheriting the disease.
A specific gene test has been developed that allows a person to discover if they carry the abnormal HD gene and if they will someday have the disease. The test is very accurate; however, it cannot predict when the disease will occur or the severity of the symptoms. Individuals who test positive for the gene can remain unaffected for many years.
The physical symptoms — jerky movements, balance problems, twitching — typically develop between the ages of 35 and 44. Some of the early symptoms include emotional changes, such as irritability, anger, depression and paranoia. Cognitive skills decline, including difficulties in learning new information, responding to questions and remembering facts.
Currently, there is no treatment that can halt or reverse the disease. Psychotherapy, physical therapy and speech therapy can be helpful, especially in the early stages. Because of the involuntary movements associated with the disease, individuals surprisingly can burn up to 5,000 calories a day, so maintaining a healthy body weight and adequate nutrition is important in plan of care.
Deciding whether to be tested for the gene is a personal decision. You may want to consider genetic counseling to help weigh the pros and cons, as well as to understand the ramifications of a positive result. Contact the Huntington’s Disease Society of America at hdsa.org.
Questions about Alzheimer’s disease or a related dementia disorder? Contact Dana Territo, the Memory Whisperer, Director of Services at Alzheimer’s Services of the Capital Area, (225) 334-7494, firstname.lastname@example.org, or visit the organization at 3772 North Blvd., Baton Rouge.