According to the University of San Francisco, more than 600 neurological disorders affect millions of people worldwide every year. While some brain disorders are caused by disease, illness, or trauma, some of these life-changing neurological disorders are unfortunately passed on to us based on our genes. These hereditary disorders are the product of one or both parents living with a genetic disorder, passing on the genetic mutation when they have a child. These genetic mutations are passed on when at least one copy of the genetic mutation is given to their child. Huntington’s disease is one such hereditary disorder that has devastating physical and cognitive symptoms and is ultimately fatal in patients young and old. Knowing what causes Huntington’s disease and how to treat the symptoms or alleviate some of the challenges can help patients and loved ones achieve a better quality of life.
What Causes Huntington’s Disease?
Huntington’s Disease is caused by a single mutated gene that is inherited by the child. Huntington’s is an autosomal dominant disorder, which means that the child only needs to inherit one copy of the defective gene to be born with the disorder. Unlike some genetic disorders where both parents must carry the mutated gene, Huntington’s can be passed along to children if only one parent carries the gene.
When a person is born with Huntington’s Disease, the symptoms progress quickly, and the patient’s quality of life continues to decline until the disorder is ultimately fatal. Unfortunately, the outlook for juvenile cases is shorter and bleaker as cases that present in juveniles typically progress and become fatal within 10 years of the diagnosis. In adults, once symptoms present and a diagnosis is made, patients typically only have 10 – 30 years before succumbing to the disease.
Huntington Disease and Its Effects – Dr. Jee Bang from Johns Hopkins Medicine
Patients with Huntington’s Disease experience a progressive decline in cognitive and physical functions as their health deteriorates. As the disease progresses, patients require physical help with day to day activities. In later stages, patients deteriorate to the point of being unable to leave their beds and unable to speak or live independently.
Physical and cognitive symptoms of Huntington’s Disease include:
- Chorea – Involuntary jerking or uncontrolled movement
- Impaired gait – Unbalanced walking and posture
- Dystonia – Muscle rigidity and contracture
- Speech and swallowing difficulties
- Abnormal eye movement
- Lack of impulse control
- Lack of self-awareness
- Difficulty retaining newly learned information or memories
- Difficulty with cognitive processes, organizing, focusing, and perseveration
- Dramatic weight loss
- Clumsiness
- Memory lapses
- Trouble making decisions
For many people living with this disorder, physical and cognitive symptoms lead to psychiatric challenges as well. As a person’s ability to function without assistance becomes a bigger challenge as the disease progresses, a decline in their quality of life presents new emotional and mental challenges.
Huntington’s Disease | Generations of Care and Search for a Cure from John Hopkins Medicine
Psychiatric symptoms that may present after being diagnosed with Huntington’s include the following:
- Irritability and feelings of sadness
- Insomnia or an interruption in sleep patterns
- Thoughts of self-harm or suicide
- Social withdrawal
- Loss of energy or motivation to be active and fatigue
Clinical depression is very common in individuals living with Huntington’s disease as the physical limitations its symptoms force them to live with can be overwhelming and hard to handle.
Treatment and Prevention of Huntington’s Disease
To prevent passing along the mutated gene that causes Huntington’s, parents should enlist in the help of genetic testing, and individuals who would like to have children should speak with a genetic counselor to understand their options. Because the disease is hereditary, there will likely be a known family history of the disease, so testing is the best first step.
Other options for families hoping to have a child, who may have concerns about passing on the Huntington’s gene, may explore options such as family planning, adoption, donors, or in vitro fertilization.
As far as treatments for Huntington’s disease go, medical treatments aim to alleviate the symptoms and bring comfort and a better quality of life for the patient. Medications that help with chorea can help mitigate some of the struggles patients experience due to muscle function decline. Antidepressants can help patients with the mental health struggles they may face as the disease progresses. Physical therapy is almost always included in an individual’s treatment plan and is typically used in conjunction with speech therapies as the disease inhibits speech and swallowing. Anyone living with Huntington’s understands that as the disease progresses, they will need more and more support from people experiencing the same journey. For those suffering, support groups help not only themselves but also their family and loved ones understand and network to help with the challenges and struggles that can be imperative to your mental and physical health. There is no cure for Huntington’s.
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