Huntington's disease is a genetic, progressive neurodegenerative disorder that causes uncontrolled movements, cognitive decline, and psychiatric symptoms. It results from an expanded CAG repeat in the Huntingtin gene on chromosome 4, which causes neuronal cell death in the basal ganglia. Symptoms include involuntary jerking movements (chorea), muscle rigidity or contractures (dystonia), cognitive difficulties, and psychiatric issues like depression. Diagnosis involves genetic testing, imaging, and neurological exams. Treatment focuses on managing symptoms through medications, physical and occupational therapy, and nutritional/psychological support. Nursing care addresses risks of injury, impaired nutrition/communication, and managing behavioral issues.
2. MOVEMENT DISORDERS
Movement disorders are neurologic conditions
that cause problems with movement, such as
Increased movement that can be voluntary
(intentional) or involuntary (unintended)
Decreased or slow voluntary movement.
3. DEFINITION
Movement disorders are clinical syndromes with
either an excess of movement or a paucity of
voluntary and involuntary movements,
unrelated to weakness or spasticity.
4. MOVEMENT DISORDERS
Ataxia.(Impaired balance or coordination,)
Dystonia(Repetitive muscle contractions)
Huntington's disease, (Chorea) Parkinson's
disease (Damaged Nerve cell ) Tourette
syndrome,
Tremor(shaking movements of body
parts.)
6. HUNTINGTON'S
DISEASE(Chorea)
Huntington’s disease is a chronic,
progressive, hereditary disease of the
nervous system that results in progressive
involuntary choreiform movement and
dementia.
Huntington's disease is an inherited disease
that causes the progressive breakdown
(degeneration) of nerve cells in the brain.
7. FACTS
HD is named after George Huntington, the
physician who described it as hereditary
chorea in 1872.
Characteristic features of HD include
involuntary movements, dementia, and
behavioral changes.
8. CAUSES
The huntingtin gene defect involves extra
repeats of one specific chemical code in one
small section of chromosome 4. The normal
huntingtin gene includes 17 to 20 repetitions of
this code among its total of more than 3,100
codes.
The defect that causes Huntington's disease
includes 40 or more repeats. Genetic tests for
Huntington's disease measure the number of
repeats present in an individual's huntingtin
protein gene.
9. PATHOPHYSIOLOGY
Movement,Cognitive and mood symptoms
Excitotoxicity of neural cell due to High Ca2+
Excessive mutated glutamine proteinAggregated in neuronal cell of basal ganglia(Caudate and putamen)
Abnormally long polyglutamine sequence
Repetition of nucleotide triplets CAG (cytosine, adenine, and guanine)
Affects HTT (Huntingtin) on Chromosome -4
Due to (Genetic factor)
10.
11.
12. CLINICAL MANIFESTATION
Neurologic manifestation:
Involuntary jerking movements (chorea)
Muscle problems, such as rigidity or
muscle contracture (dystonia)
Slow or abnormal eye movements Impaired
gait, posture and balance
Difficulty with production of speech or
swallowing
13. COGNITIVE
MANIFESTATION
Difficulty organizing, prioritizing or focusing on
tasks
Lack of flexibility or the tendency to get stuck on a
thought, behavior or action .
Lack of awareness of one's own behaviors and
abilities
Slowness in processing thoughts or ''finding'' words
Difficulty in learning new information
14. PSYCHIATRIC MANIFESTATION
Most common - Depression
Feelings of irritability, sadness or apathy
Social withdrawal
Insomnia
Fatigue and loss of energy
17. PHARMACOLOGICAL MANAGEMENT
Tetrabenazine (reduces dopaminergic transmission).
Antidepressants include such drugs as citalopram (Celexa),
Antipsychotic drugs: such as quetiapine (Seroquel),
risperidone (Risperdal) may suppress violent outbursts,
agitation.
Anticonvulsants, such as valproate (Depacon), carbamazepine
(Carbatrol)
18. Nursing Management
Risk for injury from falls and possible skin
breakdown (pressure ulcers, abrasions), resulting
from constant movement.
Imbalanced nutrition, less than body requirements,
due to inadequate intake.
Anxiety and impaired communication from
excessive grimacing and unintelligible speech.
Disturbed thought processes and impaired social
interaction.