May is Huntington’s Disease Awareness month in many countries around the world. Huntington’s disease is a progressive and hereditary disorder that can be identified by abnormal movement, personality changes and dementia. The disease is caused by a mutation of the Huntington’s gene and the severity of the symptoms are directly related to how mutated the gene is. The gene that controls this expansion is autosomal dominant which means that if you have the gene, you have a 50% chance of passing it on to your children and having them inherit the disease.
According to the Huntington’s Disease Society of America, there are currently over 41,000 people in the United States with the disease and 200,000 at risk of developing it in their lifetime. People typically begin to experience symptoms and are diagnosed between the ages of 30-50, however there are some under the age of 20 who develop Juvenile Onset Huntington’s disease and typically experience more severe symptoms such as seizures.
Symptoms of Huntington’s disease can be put into three categories: movement, psychiatric, and cognitive. Those with the disease will often begin to experience uncontrolled and erratic movement that begins in the hands and face, but can progress to full body movements and lack of coordination. Later in the disease there is a slowing of movement and an increase in Parkinson’s like symptoms. Psychiatric and cognitive changes include behavioral changes that can lead to aggression, irritability, depression, and apathy. People may find it more difficult to pay attention, organize their thoughts, and perform a series of activities or tasks. It may become necessary to describe how to perform things step by step.
Physical Therapy can play a role in every stage of the disease. During the early phases, physical therapy focuses on delaying the onset of mobility restriction. This is done by providing a program that is centered on each individual’s deficits and limitations. As the disease progresses there is a large emphasis placed on maintaining strength, mobility, and functional capabilities. It is important to ensure that people are not only able to remain mobile , but can perform daily tasks such as dressing, eating, working and anything else that is important to them in order to maintain a high quality of life. As falls become more frequent, it is important to find ways to maintain your level of movement to prevent any unnecessary decline due to inactivity. In the later stage of the disease the focus switches to minimizing complications and educating their family and caregiver on strategies to make caretaking easier and allow them to be as independent as they are capable of being.
While there is currently no known cure for Huntington’s, there are a variety of medications and therapies being used to help slow the progression and improve the quality of life of those afflicted with the disease. You can find more information on the HDSA website https://hdsa.org/
Author: Edgar Vargas, PT, DPT
Dr. Edgar Vargas, PT, DPT received his Bachelor of Science degree in Kinesiology with emphasis on Exercise Science from California State University, Long Beach graduating Cum Laude. He later received his Doctorate in Physical Therapy from Chapman University. He has clinical experience in a variety of inpatient and outpatient settings including orthopedic and neurologic. Through his treatments, Edgar aims to treat the patient as a whole by listening to and understanding the individual needs of the patient. He seeks to educate each patient so that they may become confident in managing their conditions.Outside of the clinic, he spends his time rock climbing, traveling, and relaxing with his family and friends.
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