Huntington's Disease

Definition

Huntington's disease is a rare, inherited neurological disorder characterized by uncontrolled movements, emotional problems, and loss of thinking ability. It is caused by a defective gene that damages certain nerve cells in the brain, leading to progressive physical, mental, and emotional deterioration.

5 Must Know Facts For Your Next Test

1. Huntington's disease is an autosomal dominant disorder, meaning that an individual only needs to inherit one copy of the defective gene from a parent to develop the condition.
2. The defective gene in Huntington's disease produces an abnormal version of the huntingtin protein, which accumulates in the brain and causes the death of nerve cells.
3. The onset of Huntington's disease typically occurs between the ages of 30 and 50, but it can also develop in children and the elderly.
4. In addition to the characteristic involuntary movements, Huntington's disease can also cause cognitive impairment, personality changes, and psychiatric disorders, such as depression and anxiety.
5. There is no cure for Huntington's disease, but treatments are available to manage the symptoms and improve the quality of life for those affected by the condition.

Review Questions

• Explain the genetic basis of Huntington's disease and how it leads to the development of the disorder.
  • Huntington's disease is caused by a defective gene that produces an abnormal version of the huntingtin protein. This protein accumulates in the brain and causes the death of nerve cells. The defective gene is inherited in an autosomal dominant pattern, meaning that an individual only needs to inherit one copy of the gene from a parent to develop the condition. The abnormal huntingtin protein leads to the progressive degeneration of specific brain regions, resulting in the characteristic symptoms of Huntington's disease, including uncontrolled movements, cognitive impairment, and emotional problems.
• Describe the typical onset and progression of Huntington's disease, and discuss the various symptoms that individuals with the disorder may experience.
  • Huntington's disease typically manifests between the ages of 30 and 50, although it can also develop in children and the elderly. The disorder is characterized by a progressive deterioration of physical, mental, and emotional functions. The most prominent symptom is the development of involuntary, rapid, and irregular movements known as chorea. As the disease progresses, individuals may also experience cognitive impairment, such as difficulty with problem-solving, memory, and decision-making. Personality changes, including depression, anxiety, and irritability, are also common in Huntington's disease. The disease continues to worsen over time, leading to increasing disability and, ultimately, death.
• Explain the current treatment approaches for Huntington's disease and discuss the challenges in managing this disorder.
  • There is no cure for Huntington's disease, but various treatments are available to help manage the symptoms and improve the quality of life for those affected. Medications can be used to control the involuntary movements and emotional/psychiatric symptoms, such as antipsychotics, antidepressants, and anti-anxiety drugs. Physical therapy, occupational therapy, and speech therapy can also help individuals maintain their physical and cognitive abilities for as long as possible. However, the progressive nature of Huntington's disease and the lack of a cure pose significant challenges in managing the disorder. As the disease advances, individuals require increasing levels of care and support, which can be emotionally and financially taxing for both the individual and their family members. Additionally, the genetic nature of Huntington's disease raises ethical and psychological concerns, as individuals at risk for the disorder must consider the implications of genetic testing and the potential impact on their family.

Related terms

Trinucleotide Repeat Disorder: A type of genetic disorder caused by the abnormal expansion of a sequence of three DNA nucleotides, which can lead to the production of faulty proteins and cell dysfunction.

Chorea: Involuntary, rapid, and irregular movements that are a hallmark symptom of Huntington's disease.

Neurodegenerative Disorder: A group of disorders characterized by the progressive loss of structure or function of neurons, which can lead to the death of those neurons.