Huntington chorea is chronic, progressive, hereditary, autosomal ,neuro degenerative disease of the nervous system that results in progressive involuntary choreiform movement and dementia.
2. Huntington’s disease (HD) is a chronic,
progressive, hereditary, autosomal
neurodegenerative disease of the nervous system
that results in progressive involuntary choreiform
movements and dementia.
It is an inherited disease that causes the
progressive degeneration of nerve cells in the
brain.
INTRODUCTION
INTRODUCTION
3. Age of onset- 25 and 45 years
Age of onset- 25 and 45 years
4. The disease affects approximately 1 in 10,000
men or women of all races at midlife.
It is an autosomal dominant genetic disorder,
therfore each child of a parent with huntington’s
disease has a 50% risk of inherititing the disorder.
A genetic mutation in huntigton disease, the
presence of a repeat in the huntington gene(HTT)
has been identified.
Introduction contt….
Introduction contt….
5. The basic pathology involves premature death of
cells in the striatum of the basal ganglia, the region
deep within the brain that is involved in the control of
movement.
Cells also are lost in the cortex, the region of the
brain associated with thinking, memory, perception,
judgement, and behavior and in in the cerebellum,
the area that coordinates voluntary muscle activity.
Why the protein destroys only certain brain cells is
unknown.
Pathophysiology
Pathophysiology
6. HD is caused by an abnormality of the 4th
chromosome and HTT genes (makes huntingtin),
and the gene mutates, making a defective protein.
This flawed gene holds the blueprint for the
defective version of the protein “huntingtin”.
The huntington gene defect also has 40 repeats
of genetic code , unlike the normal gene that only
has 17-20 repetitions.
causes
causes
8. TRIAD FEATURES OF HUNTINGTON’S DISEASE
TRIAD FEATURES OF HUNTINGTON’S DISEASE
TRIAD FEATURES OF HUNTINGTON’S DISEASE
TRIAD FEATURES OF HUNTINGTON’S DISEASE
9. The most prominent clinical features of the
disease are chorea( rapid jerky, involuntary ,
purposeless movements).
Speech becomes slurred, hesitent, often
exploisive and eventually unintelligible.
Chewing & swallowing are difficult, &there is a
constant danger of choking and aspiration.
Choreiform movements persist during sleep
but are diminished.
c/m
c/m
10. Diagnostic tests
Diagnostic tests
1. History and physical
examination
2. Neuropsychological testing
3. Genetic testing
4.positron emission
tomography
5. Ct scan and MRI
11. TETRABENZINE (reduces dopaminergic
transmission).
Antidepressants include such drugs as
CITALOPRAM (celexa).
Antipsychotic drugs: such as QUETIAPINE
(SEROQUEL), RISPERIDONE (RISPERDAL) may
supress violent outbursts, agitation.
Anticonvulsants, such as VALPROATE,
CARBAMAZEPINE.
Control of jerky movements with PHENOTHIAZINES,
BUTYROPHENONS & THIOXANTHENES.
MANAGEMENNT (PHARMACOLOGICAL)
MANAGEMENNT (PHARMACOLOGICAL)
MANAGEMENNT (PHARMACOLOGICAL)
12. Deep brain stimulation – a
procedure in which
miniature electrodes that
release pulses of electricity
are implanted in to the
brain .
this treatment may prove
useful for reducing
symptoms of chorea.
CONTT…
CONTT…
13. Avoid tyramine foods such as red wine aged
cheese.
Take antioxidants, phytonutrients , high calorie
snacks and nutrient dense food.
Avoid hard foods such as nuts.
Drink sufficient water.
Dietary management
Dietary management
14.
Nursing diagnosis –
Risk for injury from falls and poddible skin
breakdown due to constant movement.
Imbalanced nutrition less than body requirement
r/t dysphagia
Anxiety and impaired communication from
excessive grimacing and unintengible speech
Confusion and impaired social interaction.
Nursing management
Nursing management
15. Modify environment to increase safety.
Secure the patient in bed with protective devices.
Consult to speech therapist to help maintain and
prolong communiction abilities.
Talk to patient before mealtime to promote
relaxation, use mealtime fir social interaction.
Disregard messiness and treat patient with dignity.
Reorient patient after awakening.
Nursing interventions
Nursing interventions
