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Huntington's DiseaseHuntington's Disease
“13” Woody Guthrie Arlo Guthrie
Concept Map: Selected Topics in Neurological Nursing
PATHOPHYSIOLOGY
Traumatic Brain Injury
Spinal Cord Injury
Specific Disease Entities:
Amyotropic Lateral Sclerosis
Multiple Sclerosis
Huntington’s Disease
Alzheimer’s Disease
Huntington’s Disease
Myasthenia Gravis
Guillian-Barre’ Syndrome
Meningitis
Parkinson’s Disease
PHARMACOLOGY
--Decrease ICP
--Disease /
Condition
Specific Meds
ASSESSMENT
Physical Assessment
Inspection
Palpation
Percussion
Auscultation
ICP Monitoring
“Neuro Checks”
Lab Monitoring
Care Planning
Plan for client adl’s,
Monitoring, med admin.,
Patient education, more…based
On Nursing Process:
A_D_P_I_E
Nursing Interventions & Evaluation
Execute the care plan, evaluate for
Efficacy, revise as necessary
3
Huntington's DiseaseHuntington's Disease
 Degenerative disease
 Progressive
 Fatal (10 – 20 years)
 Inherited (Autosomal Dominant)
 Somewhat rare
4
Huntington's DiseaseHuntington's Disease
Gradual loss of
Motor coordination and
Mental function
5
What’s in a Name ?What’s in a Name ?
“ChoreaChorea" comes from the Greek word for
"dance" and refers to the incessant quick, jerky,
involuntary movements that are characteristic of
Huntington’s ChoreaHuntington’s Chorea
6
Destroys neurons in areas of the brain involved
in the emotions, intellect, and movement
ATROPHY – Brain Cell Death
PathophysiologyPathophysiology
7
Which Explains…Which Explains…
 Jerking uncontrollable movement of the limbs,
trunk, and face (chorea)
 Progressive loss of mental abilities
 Development of psychiatric problems
8
CharacteristicsCharacteristics
 Usually develops at age 35 – 45 (+ or – 17 years)
 10% in children
 Men and women equally
 Younger people with Huntington's disease often
have more severe case, and symptoms may
progress more quickly
9
Cause and Risk FactorsCause and Risk Factors
 Having a parent with Huntington's is the risk factor. A child of
an affected parent has a 50% chance of inheriting the disease
 The genetic mutation that occurs in gene IT-15, located on
chromosome 4, alters the huntington protein, which is present
in all human beings, and causes Huntington's disease. How
the mutation of gene IT-15 alters the function of the protein is
not well understood
10
Pre-Symptomatic TestingPre-Symptomatic Testing
A positive test result can have profound,
unanticipated impacts on patients and
their families
11
Pre-Symptomatic TestingPre-Symptomatic Testing
 Can be performed on adults, children, and even fetuses in the
womb. Genetic testing of a fetus holds special challenges and
risks, and some testing facilities choose not to do it
 At-risk couples wanting to have children may choose to
undergo in vitro fertilization with pre-implantation screening. In
this procedure, embryos produced from the couple's sperm
and eggs are screened to identify one that is free of the HD
mutation, which is then implanted in the woman's uterus
12
Types of SymptomsTypes of Symptoms
1. Movement
2. Cognitive
3. Psychiatric
* Chorea can become more intense when the
person is anxious or upset
13
CognitiveCognitive
 As Huntington's disease progresses, the ability to
concentrate becomes more difficult
 May have difficulty driving, keeping track of things,
making decisions, answering questions, and may
lose the ability to recognize familiar objects.
 Over time judgment, memory, and other cognitive
functions begin to deteriorate into dementia
14
PsychiatricPsychiatric
 Early psychiatric symptoms of Huntington's disease are
subtle, varied, and easily overlooked or misinterpreted
 Depression is the most common psychiatric symptom
and often develops early in the course of the disease.
Signs of depression include:
- Hostility/irritability
- Inability to take pleasure in life (anhedonia)
- Lack of energy
15
Continued…
 May exhibit psychotic behavior:
- Delusions
- Hallucinations
- Inappropriate behavior (eg unprovoked agression)
- Paranoia
16
ComplicationsComplications
 Lack of physical activity, dietary problems, and eating
and swallowing problems can cause constipation,
incontinence, and weight loss
 Psychiatric and cognitive problems can lead to social
isolation and deep depression
17
CT ScanCT Scan
 Often shows shrinkage of the brain:
 Actually lose about 30% of brain weight
18
Genetic TestingGenetic Testing
 Genetic testing may be required from a closely related affected
relative, ideally a parent
 This helps confirm the diagnosis and is important if the family's
history is in any way unclear, uncertain, or unusual
 Persons who test positive and are considering pregnancy are
advised to seek genetic counseling before they conceive
19
TreatmentTreatment
 There is NO CURENO CURE for Huntington's disease
 Collaborative goals focus on:
- Reducing symptoms
- Preventing complications
- Providing support and assistance to the patient
and significant others
20
MedicationsMedications
Medications are available to help manage themanage the
signs and symptomssigns and symptoms of Huntington's disease, but
treatments can't prevent the physical and mental
decline associated with this condition
21
MedicationMedication
Antipsychotics (hallucinations, delusions, violent outbursts):
haloperidol, chlorpromazine, olanzapine
(contraindicated if patient has dystonia)
Antidepressants (depression, obsessive-compulsive behavior):
fluoxetine, sertraline hydrochloride, nortriptyline
Tranquilizers (anxiety, chorea): benzodiazepines, paroxetine,
venlafaxin, beta-blockers
Mood-stabilizers (mania, bipolar disorder): lithium, valproate,
carbamazepine
Botulinum toxin (dystonia, jaw clenching)
22
NutritionNutrition
 Some HC patients need a lot of time for meals because
the loss of coordinated movement makes it difficult for
them to swallow or feed themselves
 Minimize Risk of Choking
- Cut food into small pieces, softened, or pureed to make
swallowing easier
- Swallowing therapy can help if started before there is serious
difficulty
- Avoid dairy products because they tend to increase the secretion
of mucus, which can increase the risk for choking
23
Continued…
 Important to consume enough calories to maintain
adequate body weight
- Number of daily meals may have to be increased
- Vitamins and nutritional supplements recommended
- If eating and dietary problems become severe, may need
feeding tube
 Requires large quantities of fluids (especially during hot
weather to avoid dehydration)
- Bendable straws make drinking easier
- Liquids may have to be thickened with additives to the
consistency of syrup before drinking is possible
24
Physical ActivityPhysical Activity
 Should walk as much as possible, even if assistance is necessary
 Daily exercise promotes physical and mental well-being
 Falls are always a risk, keep surroundings free of hard, sharp
objects
 Wearing special padding during walks helps protect against injury
from falls
 Small weights worn around the ankles and sturdy, well-fitting shoes
that slip on and off easily can improve a patient's stability
25
Social ActivitySocial Activity
 Unless and until the disease's progression prohibits it,
should participate in outside activities, socialize, and
pursue hobbies and interests
 These activities also give family members and
caregivers valuable time for themselves
26
PrognosisPrognosis
 The bedridden patient in the final stages of Huntington's
disease often dies from complications such as heart
failure or pneumonia
 Juvenile Huntington's disease (16%) runs it course
comparatively fast, with death typically occurring in about
10 years
27
Affairs in Order…Affairs in Order…
 While it may be emotionally difficult, it is important for patients and
caregivers to make informed, carefully considered decisions
regarding the future while the patient is capable of making his or her
contribution to a planned course of action
 Patients and their family members should discuss and consider
issues such as legal concerns, home care, assisted care, and
institutionalization
 Draw up wills and other important documents as early as possible to
avoid legal problems later on, when the patient may be unable to
represent his or her own interests
 Legal assistance may be necessary if the patient encounters
discrimination over insurance or employment.

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Huntington's chorea syndrome

  • 2. Concept Map: Selected Topics in Neurological Nursing PATHOPHYSIOLOGY Traumatic Brain Injury Spinal Cord Injury Specific Disease Entities: Amyotropic Lateral Sclerosis Multiple Sclerosis Huntington’s Disease Alzheimer’s Disease Huntington’s Disease Myasthenia Gravis Guillian-Barre’ Syndrome Meningitis Parkinson’s Disease PHARMACOLOGY --Decrease ICP --Disease / Condition Specific Meds ASSESSMENT Physical Assessment Inspection Palpation Percussion Auscultation ICP Monitoring “Neuro Checks” Lab Monitoring Care Planning Plan for client adl’s, Monitoring, med admin., Patient education, more…based On Nursing Process: A_D_P_I_E Nursing Interventions & Evaluation Execute the care plan, evaluate for Efficacy, revise as necessary
  • 3. 3 Huntington's DiseaseHuntington's Disease  Degenerative disease  Progressive  Fatal (10 – 20 years)  Inherited (Autosomal Dominant)  Somewhat rare
  • 4. 4 Huntington's DiseaseHuntington's Disease Gradual loss of Motor coordination and Mental function
  • 5. 5 What’s in a Name ?What’s in a Name ? “ChoreaChorea" comes from the Greek word for "dance" and refers to the incessant quick, jerky, involuntary movements that are characteristic of Huntington’s ChoreaHuntington’s Chorea
  • 6. 6 Destroys neurons in areas of the brain involved in the emotions, intellect, and movement ATROPHY – Brain Cell Death PathophysiologyPathophysiology
  • 7. 7 Which Explains…Which Explains…  Jerking uncontrollable movement of the limbs, trunk, and face (chorea)  Progressive loss of mental abilities  Development of psychiatric problems
  • 8. 8 CharacteristicsCharacteristics  Usually develops at age 35 – 45 (+ or – 17 years)  10% in children  Men and women equally  Younger people with Huntington's disease often have more severe case, and symptoms may progress more quickly
  • 9. 9 Cause and Risk FactorsCause and Risk Factors  Having a parent with Huntington's is the risk factor. A child of an affected parent has a 50% chance of inheriting the disease  The genetic mutation that occurs in gene IT-15, located on chromosome 4, alters the huntington protein, which is present in all human beings, and causes Huntington's disease. How the mutation of gene IT-15 alters the function of the protein is not well understood
  • 10. 10 Pre-Symptomatic TestingPre-Symptomatic Testing A positive test result can have profound, unanticipated impacts on patients and their families
  • 11. 11 Pre-Symptomatic TestingPre-Symptomatic Testing  Can be performed on adults, children, and even fetuses in the womb. Genetic testing of a fetus holds special challenges and risks, and some testing facilities choose not to do it  At-risk couples wanting to have children may choose to undergo in vitro fertilization with pre-implantation screening. In this procedure, embryos produced from the couple's sperm and eggs are screened to identify one that is free of the HD mutation, which is then implanted in the woman's uterus
  • 12. 12 Types of SymptomsTypes of Symptoms 1. Movement 2. Cognitive 3. Psychiatric * Chorea can become more intense when the person is anxious or upset
  • 13. 13 CognitiveCognitive  As Huntington's disease progresses, the ability to concentrate becomes more difficult  May have difficulty driving, keeping track of things, making decisions, answering questions, and may lose the ability to recognize familiar objects.  Over time judgment, memory, and other cognitive functions begin to deteriorate into dementia
  • 14. 14 PsychiatricPsychiatric  Early psychiatric symptoms of Huntington's disease are subtle, varied, and easily overlooked or misinterpreted  Depression is the most common psychiatric symptom and often develops early in the course of the disease. Signs of depression include: - Hostility/irritability - Inability to take pleasure in life (anhedonia) - Lack of energy
  • 15. 15 Continued…  May exhibit psychotic behavior: - Delusions - Hallucinations - Inappropriate behavior (eg unprovoked agression) - Paranoia
  • 16. 16 ComplicationsComplications  Lack of physical activity, dietary problems, and eating and swallowing problems can cause constipation, incontinence, and weight loss  Psychiatric and cognitive problems can lead to social isolation and deep depression
  • 17. 17 CT ScanCT Scan  Often shows shrinkage of the brain:  Actually lose about 30% of brain weight
  • 18. 18 Genetic TestingGenetic Testing  Genetic testing may be required from a closely related affected relative, ideally a parent  This helps confirm the diagnosis and is important if the family's history is in any way unclear, uncertain, or unusual  Persons who test positive and are considering pregnancy are advised to seek genetic counseling before they conceive
  • 19. 19 TreatmentTreatment  There is NO CURENO CURE for Huntington's disease  Collaborative goals focus on: - Reducing symptoms - Preventing complications - Providing support and assistance to the patient and significant others
  • 20. 20 MedicationsMedications Medications are available to help manage themanage the signs and symptomssigns and symptoms of Huntington's disease, but treatments can't prevent the physical and mental decline associated with this condition
  • 21. 21 MedicationMedication Antipsychotics (hallucinations, delusions, violent outbursts): haloperidol, chlorpromazine, olanzapine (contraindicated if patient has dystonia) Antidepressants (depression, obsessive-compulsive behavior): fluoxetine, sertraline hydrochloride, nortriptyline Tranquilizers (anxiety, chorea): benzodiazepines, paroxetine, venlafaxin, beta-blockers Mood-stabilizers (mania, bipolar disorder): lithium, valproate, carbamazepine Botulinum toxin (dystonia, jaw clenching)
  • 22. 22 NutritionNutrition  Some HC patients need a lot of time for meals because the loss of coordinated movement makes it difficult for them to swallow or feed themselves  Minimize Risk of Choking - Cut food into small pieces, softened, or pureed to make swallowing easier - Swallowing therapy can help if started before there is serious difficulty - Avoid dairy products because they tend to increase the secretion of mucus, which can increase the risk for choking
  • 23. 23 Continued…  Important to consume enough calories to maintain adequate body weight - Number of daily meals may have to be increased - Vitamins and nutritional supplements recommended - If eating and dietary problems become severe, may need feeding tube  Requires large quantities of fluids (especially during hot weather to avoid dehydration) - Bendable straws make drinking easier - Liquids may have to be thickened with additives to the consistency of syrup before drinking is possible
  • 24. 24 Physical ActivityPhysical Activity  Should walk as much as possible, even if assistance is necessary  Daily exercise promotes physical and mental well-being  Falls are always a risk, keep surroundings free of hard, sharp objects  Wearing special padding during walks helps protect against injury from falls  Small weights worn around the ankles and sturdy, well-fitting shoes that slip on and off easily can improve a patient's stability
  • 25. 25 Social ActivitySocial Activity  Unless and until the disease's progression prohibits it, should participate in outside activities, socialize, and pursue hobbies and interests  These activities also give family members and caregivers valuable time for themselves
  • 26. 26 PrognosisPrognosis  The bedridden patient in the final stages of Huntington's disease often dies from complications such as heart failure or pneumonia  Juvenile Huntington's disease (16%) runs it course comparatively fast, with death typically occurring in about 10 years
  • 27. 27 Affairs in Order…Affairs in Order…  While it may be emotionally difficult, it is important for patients and caregivers to make informed, carefully considered decisions regarding the future while the patient is capable of making his or her contribution to a planned course of action  Patients and their family members should discuss and consider issues such as legal concerns, home care, assisted care, and institutionalization  Draw up wills and other important documents as early as possible to avoid legal problems later on, when the patient may be unable to represent his or her own interests  Legal assistance may be necessary if the patient encounters discrimination over insurance or employment.