Huntington’s Disease (HD) is a rare, neurodegenerative disorder that affects the brain and results in physical, mental and behavioral symptoms. It is caused by a genetic mutation and can lead to intellectual decline, impaired movement and changes in personality. Though the exact cause of Huntington’s Disease remains unknown, there are treatments available to help manage symptoms.
Symptoms of Huntington’s Disease
Common symptoms of Huntington’s Disease include difficulty walking or balancing, involuntary movements, emotional instability that can manifest as depression or irritability, and problems with thinking, planning and problem-solving. Other physical manifestations of the disorder may include unsteadiness, stiffness or jerky, uncontrolled movements. In addition to these physical symptoms, people living with HD often experience cognitive decline, including difficulty in forming new memories and difficulties paying attention.
Causes of Huntington’s Disease
Huntington’s Disease is caused by a mutated gene responsible for creating a protein called huntingtin. This mutated gene, inherited from either parent, causes the body to produce an unusually large amount of the protein, which can then damage parts of the brain responsible for controlling thought, emotions and movement. Researchers are still working on understanding exactly how this mutation affects the brain cells.
Diagnosis for Huntington’s Disease
Diagnosis of Huntington’s Disease is based on an individual’s family history, a physical exam, and a neurological exam. There are also genetic tests and imaging scans available to help confirm or rule out the condition. Genetic counseling and other forms of psychological therapy can be beneficial for those living with implications due to their diagnosis.
Treatments for Huntington’s Disease
Treatments for Huntington’s Disease are aimed at symptom management, typically focusing on medications to improve movement and speech, psychotherapy to help manage the emotional effects, and occupational therapy to help with day-to-day activities. Surgery is only sometimes considered if symptoms become severe enough. Additionally, gene editing has been explored as a potential therapy in some cases.
Prevention of Huntington’s Disease
Huntington’s Disease is an inherited condition, so there is no way to prevent it. Genetic counseling and testing may be useful for individuals at risk of passing it on to their children. Additionally, taking steps to maintain a healthy diet and lifestyle can help manage the symptoms but will not prevent the onset of any neurological disorder.
Tips for Coping
Huntington’s disease is a progressive neurological condition with a wide range of symptoms that can be difficult to manage. To help cope, it is important to keep things simple by making sure to get enough rest, exercise, and nutrition. One practical suggestion for those dealing with HD is to carry earplugs to help block out noise that may otherwise be uncomfortable. It is also very helpful to carry calendars and sticky notes when you are out and about, as well as setting up a message center in your home for other family members to check. Additionally, using voicemail and recording systems can help make sure you don’t miss any messages or phone calls, while using recipes with a numbering system can help follow directions more easily.