Podcast
Questions and Answers
Which of the following pathophysiological mechanisms most directly contributes to the choreiform movements observed in Huntington's disease?
Which of the following pathophysiological mechanisms most directly contributes to the choreiform movements observed in Huntington's disease?
- Impaired dopamine reuptake in the nigrostriatal pathway, leading to dopamine excess.
- Hyperexcitability of cortical motor neurons due to reduced thalamic inhibition.
- Selective degeneration of GABAergic neurons in the indirect pathway of the basal ganglia. (correct)
- Atrophy of cerebellar Purkinje cells, disrupting motor coordination and balance.
A 45-year-old patient presents with subtle personality changes, including increased irritability and impulsivity. Cognitive testing reveals deficits in executive function and visuospatial processing. Family history is significant for Huntington's disease. Which neuroimaging modality would be most sensitive in detecting early structural changes associated with Huntington's disease?
A 45-year-old patient presents with subtle personality changes, including increased irritability and impulsivity. Cognitive testing reveals deficits in executive function and visuospatial processing. Family history is significant for Huntington's disease. Which neuroimaging modality would be most sensitive in detecting early structural changes associated with Huntington's disease?
- Diffusion tensor imaging (DTI) to assess white matter tract integrity
- Positron emission tomography (PET) with [18F]-FDG to measure regional glucose metabolism.
- Magnetic resonance spectroscopy (MRS) to evaluate neuronal metabolic profiles.
- Volumetric MRI to quantify caudate nucleus and putamen atrophy. (correct)
Which of the following genetic phenomena is primarily responsible for the anticipation observed in Huntington's disease, where successive generations exhibit earlier onset and increased severity of symptoms?
Which of the following genetic phenomena is primarily responsible for the anticipation observed in Huntington's disease, where successive generations exhibit earlier onset and increased severity of symptoms?
- Chromosomal translocation involving the short arm of chromosome 4.
- Mitochondrial inheritance of the mutated huntingtin gene.
- Expansion of a trinucleotide repeat sequence within the HTT gene during spermatogenesis. (correct)
- Genomic imprinting affecting the expression of the huntingtin allele.
A researcher is investigating potential therapeutic targets for Huntington's disease. Which of the following molecular mechanisms would represent the most promising strategy to prevent or delay disease progression?
A researcher is investigating potential therapeutic targets for Huntington's disease. Which of the following molecular mechanisms would represent the most promising strategy to prevent or delay disease progression?
A patient with advanced Huntington's disease is experiencing severe dysphagia, leading to recurrent aspiration pneumonia. Which of the following interventions would be most appropriate to address this specific complication?
A patient with advanced Huntington's disease is experiencing severe dysphagia, leading to recurrent aspiration pneumonia. Which of the following interventions would be most appropriate to address this specific complication?
A clinical trial is evaluating the efficacy of a novel drug for Huntington's disease. The primary outcome measure is the change in the Unified Huntington's Disease Rating Scale (UHDRS) total motor score. To minimize rater bias in this trial, which of the following strategies is most critical?
A clinical trial is evaluating the efficacy of a novel drug for Huntington's disease. The primary outcome measure is the change in the Unified Huntington's Disease Rating Scale (UHDRS) total motor score. To minimize rater bias in this trial, which of the following strategies is most critical?
A 30-year-old woman whose father has Huntington's disease is considering genetic testing. She is currently asymptomatic and has no immediate plans to start a family. Which of the following ethical considerations is most pertinent in guiding her decision?
A 30-year-old woman whose father has Huntington's disease is considering genetic testing. She is currently asymptomatic and has no immediate plans to start a family. Which of the following ethical considerations is most pertinent in guiding her decision?
Which of the following cellular processes is most directly implicated in the selective vulnerability of medium spiny neurons (MSNs) in the striatum in Huntington's disease?
Which of the following cellular processes is most directly implicated in the selective vulnerability of medium spiny neurons (MSNs) in the striatum in Huntington's disease?
In the context of Huntington's disease, what is the principal role of the mutant huntingtin protein in disrupting cellular function?
In the context of Huntington's disease, what is the principal role of the mutant huntingtin protein in disrupting cellular function?
Which of the following best describes the underlying genetic architecture of Huntington's disease?
Which of the following best describes the underlying genetic architecture of Huntington's disease?
What is the most appropriate initial nursing intervention for a Huntington's disease patient exhibiting frequent, involuntary choreatic movements that increase the risk of falls?
What is the most appropriate initial nursing intervention for a Huntington's disease patient exhibiting frequent, involuntary choreatic movements that increase the risk of falls?
Which of the following statements accurately describes the role of CAG repeat length in the HTT gene in Huntington's disease?
Which of the following statements accurately describes the role of CAG repeat length in the HTT gene in Huntington's disease?
What is the primary mechanism by which phenothiazines alleviate chorea in Huntington's disease?
What is the primary mechanism by which phenothiazines alleviate chorea in Huntington's disease?
A patient with Huntington's disease is exhibiting significant behavioral disturbances, including irritability, aggression, and impulsivity. Which of the following pharmacological agents would be most appropriate as a first-line treatment for these neuropsychiatric symptoms?
A patient with Huntington's disease is exhibiting significant behavioral disturbances, including irritability, aggression, and impulsivity. Which of the following pharmacological agents would be most appropriate as a first-line treatment for these neuropsychiatric symptoms?
Why is genetic counseling recommended for individuals at risk of Huntington's disease?
Why is genetic counseling recommended for individuals at risk of Huntington's disease?
What is the significance of observing a loss of control of bowel movements in a patient with Huntington's disease?
What is the significance of observing a loss of control of bowel movements in a patient with Huntington's disease?
Which of the following nursing interventions is most crucial when caring for a patient with Huntington's disease who is experiencing difficulty with ambulation?
Which of the following nursing interventions is most crucial when caring for a patient with Huntington's disease who is experiencing difficulty with ambulation?
A patient with Huntington's disease is exhibiting signs of depression. What is the most appropriate initial approach to managing this symptom?
A patient with Huntington's disease is exhibiting signs of depression. What is the most appropriate initial approach to managing this symptom?
How does Huntington's disease typically affect speech?
How does Huntington's disease typically affect speech?
Which of the following best explains the rationale for placing a patient with Huntington's disease in a bolt upright position with their neck flexed during feeding?
Which of the following best explains the rationale for placing a patient with Huntington's disease in a bolt upright position with their neck flexed during feeding?
Which of the following represents the most significant long-term complication directly resulting from Huntington's disease itself?
Which of the following represents the most significant long-term complication directly resulting from Huntington's disease itself?
What is the primary purpose of using lambswool padding for heel and elbow protection in patients with Huntington's disease?
What is the primary purpose of using lambswool padding for heel and elbow protection in patients with Huntington's disease?
How does Huntington's disease inheritance differ from mitochondrial inheritance?
How does Huntington's disease inheritance differ from mitochondrial inheritance?
Which of the following interventions is most likely to mitigate the risk of pneumonia in a patient with advanced Huntington's disease?
Which of the following interventions is most likely to mitigate the risk of pneumonia in a patient with advanced Huntington's disease?
What is the significance of enlargement of the caudate nuclei and putamen observed on MRI scans of patients with Huntington's disease?
What is the significance of enlargement of the caudate nuclei and putamen observed on MRI scans of patients with Huntington's disease?
Which of the following statements is most accurate regarding the use of diazepam in managing Huntington's disease?
Which of the following statements is most accurate regarding the use of diazepam in managing Huntington's disease?
What is the most significant ethical challenge associated with predictive genetic testing for Huntington's disease in asymptomatic individuals?
What is the most significant ethical challenge associated with predictive genetic testing for Huntington's disease in asymptomatic individuals?
A researcher is developing a novel gene therapy approach for Huntington's disease. Which of the following strategies would be most effective in specifically targeting the mutant huntingtin gene while sparing the normal allele?
A researcher is developing a novel gene therapy approach for Huntington's disease. Which of the following strategies would be most effective in specifically targeting the mutant huntingtin gene while sparing the normal allele?
A 50-year-old patient with Huntington's disease presents with progressive dysphagia and malnutrition. Despite dietary modifications and feeding assistance, the patient continues to lose weight and experiences recurrent aspiration. Which of the following interventions is most appropriate to ensure adequate nutritional support and minimize aspiration risk?
A 50-year-old patient with Huntington's disease presents with progressive dysphagia and malnutrition. Despite dietary modifications and feeding assistance, the patient continues to lose weight and experiences recurrent aspiration. Which of the following interventions is most appropriate to ensure adequate nutritional support and minimize aspiration risk?
What distinguishes chorea in Huntington's disease from athetosis?
What distinguishes chorea in Huntington's disease from athetosis?
Which nursing intervention is most beneficial to maintain skin integrity in Huntington's disease patients?
Which nursing intervention is most beneficial to maintain skin integrity in Huntington's disease patients?
What is the role of the basal ganglia in the pathophysiology of Huntington's disease?
What is the role of the basal ganglia in the pathophysiology of Huntington's disease?
Which statement best characterizes the impact of Huntington's disease on cognitive function?
Which statement best characterizes the impact of Huntington's disease on cognitive function?
What role does genetic anticipation play in Huntington's disease?
What role does genetic anticipation play in Huntington's disease?
In a family with a history of Huntington's disease, a young adult seeks genetic counseling before starting a family. If the individual tests positive for the Huntington's disease gene, what is the most likely recommendation regarding family planning options?
In a family with a history of Huntington's disease, a young adult seeks genetic counseling before starting a family. If the individual tests positive for the Huntington's disease gene, what is the most likely recommendation regarding family planning options?
A researcher is investigating the potential of CRISPR-Cas9 gene editing technology to correct the HTT gene mutation in Huntington's disease. What is the most significant challenge associated with translating this approach into a viable clinical therapy?
A researcher is investigating the potential of CRISPR-Cas9 gene editing technology to correct the HTT gene mutation in Huntington's disease. What is the most significant challenge associated with translating this approach into a viable clinical therapy?
A patient with advanced Huntington's disease is experiencing severe motor impairments and is confined to a wheelchair. Which of the following nursing interventions is most important to prevent complications associated with immobility?
A patient with advanced Huntington's disease is experiencing severe motor impairments and is confined to a wheelchair. Which of the following nursing interventions is most important to prevent complications associated with immobility?
In the context of Huntington's disease, what is the major drawback of using tetrabenazine to manage chorea?
In the context of Huntington's disease, what is the major drawback of using tetrabenazine to manage chorea?
A patient with Huntington's disease is experiencing increased difficulty with swallowing and is at high risk for aspiration pneumonia. What type of diet is most appropriate for this patient?
A patient with Huntington's disease is experiencing increased difficulty with swallowing and is at high risk for aspiration pneumonia. What type of diet is most appropriate for this patient?
Flashcards
Huntington's Disease
Huntington's Disease
An autosomal dominantly inherited disorder that usually begins in middle age and is characterized by involuntary choreic movement disorder and dementia.
Chorea
Chorea
Sudden, jerky, involuntary movements that are a key feature of Huntington's Disease.
Athetosis
Athetosis
Movements that are twisting and writhing in nature. Manifestation of Huntington's disease.
MRI for Huntington's Disease
MRI for Huntington's Disease
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Nursing Interventions for Huntington's Disease
Nursing Interventions for Huntington's Disease
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The 4 D's of Huntington's Disease
The 4 D's of Huntington's Disease
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Grimacing
Grimacing
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Torticollis.
Torticollis.
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Study Notes
Huntington's Disease Overview
- It is an autosomal dominantly inherited disorder.
- It typically begins in middle age.
- Characterized by involuntary choreic disorder and dementia.
- A genetically transmitted disorder.
- Caused by a single autosomal dominant gene.
Manifestations
- Chorea can occur, which involves sudden, jerky movements.
- Uncontrollable fits of anger are a symptom.
- Control of bowel movement is lost.
- Athetiod movements, such as twisting, occur.
- Impaired respiration is a manifestation.
- Incontinence can result.
- Grimacing, or contorted face, happens.
- Torticollis, a twisted neck, is observed.
- Poor balance is a sign.
- Tongue smacking can occur.
- Speech becomes slurred, hesitant, often explosive, & eventually unintelligible.
Additional Symptoms
- Depression
- Dysphagia
- Difficulty in ambulation
- Dementia
Diagnostics
- Diagnosed by CT scan.
- Diagnosed by MRI (enlargement of caudate nuclei and putamen).
- Diagnosed by PET scan.
Pharmacotherapy
- Phenothiazines are a treatment option.
- Diazepam can be prescribed.
Complications
- Can cause heart failure.
- Can cause pneumonia.
- Death.
Nursing Interventions
- Position the patient in a bolt-upright position with their neck flexed (upright, back straight).
- Use a long-handled spoon for feeding.
- Maintain a turning schedule.
- Assist the patient with walking difficulties.
- Apply lambswool padding to protect heels and elbows.
- Keep the skin meticulously clean.
- Pad the sides and head of the bed for protection.
- Encourage ambulation with assistance to maintain mobility.
- Restrain the patient only if absolutely necessary.
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