Huntington's Disease And Dystonia Flashcards
(32 cards)
What does it mean if something is hyperkinetic?
Too much/ excessive movement
What does it mean id something is hypokinetic?
Too little/paucity of movement
Where did the term huntingtons disease come from?
- Dr George Huntington (1872) wrote a paper called ‘On Chorea’ – the inherited disorder he described became known as ‘Huntington’s Chorea’
- ‘Chorea’ comes from Greek meaning ‘group of dances’. Describes involuntary and rapid movements which can look like ‘jerky dancing’.
- Whilst chorea is a core symptom of Huntington’s Disease, it is far from the only symptom.
What are other causes off chorea?
- Sydenham’s chorea occurs as a complication of streptococcal infection
- Drugs (e.g. some antipsychotic, anticonvulsants, and oral contraceptives)
How is Huntington disease caused?
Caused by a defective gene - if an individual has the gene, they will ultimately develop Huntington’s Disease.
Can huntingtons disease be inherited?
Inherited, autosomal dominant – child has 50/50 chance of inheriting
Is huntingtons disease progressive and is there a cue?
Yes and no
How long can the progression of huntingtons disease take?
10-25 years but can vary
What age does the onset typically begin?
35-55
Way age is juvenile huntingtons?
Before 20
What are the symptoms of Huntington’s Disease?
Communication changes
–Dysarthria
–Language and cognitive
Dysphagia
Motor control changes
Behavioural and mood changes
Cognitive changes
When do speech production disturbances begin?
Early on in the disease process
What happens to speech as the disease progresses?
speech often becomes unintelligible and individuals are often non-verbal in the advanced stages of the disease.
What speech and language difficulties occur?
impaired breathing for speech production; hoarse, harsh, strained or strangled vocal quality; inappropriate rate, rhythm and pitch of speech; imprecise articulation.
Give further detail on the cause of HD?
- 46 chromosomes (23 pairs)
- Faulty gene that causes HD is on chromosome 4
- Gene produces a protein called Huntingtin
- Faulty gene results in a mutant form of Huntingtin
- Neurons in certain parts of the brain (particularly parts of the cortex, and the basal ganglia) are extremely sensitive to the effects of Huntingtin
- The mutated Huntingtin protein causes neurones to die.
What is the diagnosis of HD?
Clinical symptoms
Family history
Confirmation through genetic testing
MRI brain scan may also be carried out
What is the rating scale developed to assess?
•Developed to assess four domains of clinical performance: –Motor –Cognitive –Behavioural –Functional
What is medical management for chorea?
–Anti-psychotic medication – side effect is the suppression of involuntary movements
–Drugs which reduce the amount of dopamine reaching cells may also be used
- Antipsychotic drugs
- Antidepressants
What is dystonia?
Dysfunction in basal ganglia, cerebellum, supplementary motor areas and sensorimotor cortex
What are the two causes of dystonia?
acquired and inherited
Is Dystonia progressive or non-progressive?
Can be both
What are the symptoms of dystonia?
•Motor disorder
•Characterised by uncontrollable, excessive muscle spasms and contractions
–Can present as twisting motions and awkward, unusual postures
•Tremor can also present with some types of dystonia
What is the diagnosis of dystonia?
•Typically not straightforward
•To determine appropriate treatment, important to establish nature of dystonia
–Primary or Secondary
•Depending on individuals signs and symptoms, a number of tests may be required to confirm diagnosis. These could include:
–MRI scan (checking for brain damage, or tumour)
What are the 3 subgroups of dystonia?
Primary
Secondary/acquired
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