Huntington's disease (HD) is an incurable neurodegenerative disease mainly caused by genetic inheritance. Early symptoms of the disease often present as subtle problems with mood or mental function, with movement disorders and an unsteady gait becoming more apparent as the disease progresses. The disease affects the basal ganglia, causing a disorder called chorea, which over time can not only affect motor skills but also increase mental health problems.
Advanced symptoms of Huntington's disease include uncontrollable movements, speech difficulties, and widespread emotional and cognitive impairment.
The first symptoms of the disease are usually noticed between the ages of 30 and 50, but may appear at other ages. Over time, many patients experience a gradual deterioration in their physical abilities and mental functioning, ultimately leading to dementia, depression, and other behavioral changes. Some studies have shown that these early emotional and behavioral problems may be signs of illness and deserve greater attention.
During the course of Huntington's disease, people often experience a range of mood swings and behavioral changes. Research suggests that early in the disease, psychiatric symptoms may be the first to appear and are often missed, including mood swings, anxiety and depression. As the disease progresses, patients may find that they have less emotional responses to events around them, which may be due to structural changes in the brain.
Studies have shown that up to 76% of Huntington's disease patients reported experiencing varying degrees of psychiatric symptoms, which have a significant impact on their quality of life.
The impact of Huntington's disease on patients is profound, both physically and emotionally. This disease significantly affects the patient's self-perception in daily life. Some patients even lack awareness of the unconsciousness of their own behavior. The emergence of this situation often makes their relationship with the people around them increasingly tense.
The basic genetic basis of Huntington's disease is related to the CAG repeat sequence variation in the HTT gene. Mutations in this gene primarily lead to the production of a toxic form of the huntingtin protein (mHtt), which over time damages core areas of the brain, affecting the regulation of movement and emotion. Many studies have also pointed out that the length of the gene mutation is closely related to the occurrence and severity of symptoms.
The manifestations of Huntington's disease are not only affected by genes, but environmental factors and life experiences also play an important role in the evolution of the disease.
Some cases show that the genes of parents affect the age and course of the disease in the next generation. This phenomenon is called "genetic anticipation", which means that the age of onset of Huntington's disease will be earlier as the generations increase. This puts many families under tremendous psychological pressure.
The effects of Huntington's disease extend beyond movement and emotion to include cognitive impairment. Many patients find that their abilities in everyday cognition, such as memory, judgment, and problem solving, are significantly reduced. These changes have had a significant impact on individuals’ social lives, work, and family interactions. Some individuals with this disorder may experience egocentric behaviors and attention deficits, which further exacerbate their feelings of isolation.
Studies have found that early behavioral changes may lead to an increased risk of suicide, making care and support even more important for this progressive disease.
The care and treatment of Huntington's disease presents multiple information challenges. Many patients require full-time care, and family members often feel anxious and overwhelmed. As time goes by, how to help patients improve their physical and emotional state has become one of the hot topics in Huntington's disease research.
Although there is currently no cure for Huntington's disease, the progress in the study of pathological mechanisms and symptomatic treatment cannot be underestimated. Scientists are actively exploring new therapies, such as cell therapy and gene editing technology, in the hope of helping these patients improve their quality of life in the future.
Continued research and support from institutional efforts will be important factors in defeating Huntington's disease and may lead to more effective ways to assist patients and their families.
During this challenging journey, awareness and understanding of Huntington's disease by all sectors of society has become increasingly important. Can we do a better job of supporting the families who suffer from this disease and help them find a ray of hope?