Huntington's Disease and Dystonia Flashcards
Define Hyperkinetic.
Too much/ excessive movement.
Define Hypokinetic.
Too little/paucity of movement.
Is hungtington’s disease Hyperkinetic or Hypokinetic?
Hyperkinetic.
Is parkinson’s disease Hyperkinetic or Hypokinetics?
Hypokinetic.
________ comes from the greek meaning group of dances.
Chorea.
What is chorea?
Involuntary and rapid movements which can look like Jerky dancing.
What is a core symptom of Huntigton’s Disease?
Chorea.
What are some other causes of chorea (apart from HD)?
- Sydenham’s chorea- as a complication of streptococcal infection
- Drugs (antipsychotics, oral contraceptives)
Huntington’s Disease is a ________ condition.
Neurological.
Mumbling, becoming clumsier and more stressed are all symptoms of…
Huntington’s Disease.
What is Huntington’s disease caused by?
A defective gene.
If an individual has the ________, they will ultimately develop huntington’s disease.
Defective Gene
Huntington’s Disease is mainly _____.
Inherited.
The defective gene is autosomal dominant, what does this mean?
If 1 parent has Huntington’s Disease, they have a 50/50 chance of inheriting it.
In rare cases there is no _____ ________ of the condition.
Family History.
Huntington’s Disease is _______, there is no cure.
Progressive.
It has a prevalence of 5.7 per 100,000 people in Europe, N. America and Australia, so is quite _____.
Rare.
Huntington’s Disease has a wide spectrum of _______ which can vary between individuals.
Symptoms.
What is the typical progression of HD?
10-25 years but can vary.
When does progression of HD tend to be faster?
In Juvenile Huntington’s Disease.
Both ____ and _____ can be affected, they have an _____ chance of _______ the ______.
Men and Women
Equal
Inheriting , gene
Onset can be at any age,but when is the typical onset of HD?
Between ages 35-55.
The onset of HD before age 20 is known as…
Juvenile Huntington’s Disease.
What are the main symptoms of HD?
- Communication changes eg.dysarthria, language and cognitive ability.
- Dysphagia
- Motor control changes- jerky, choreic movements.
- Behavioural and Mood changes- depression/anger
- cognitive changes.
__________________ begin early on in the HD process.
Speech production disturbances.
What happens to speech as HD progresses?
Speech often becomes unintelligible
Individuals are often non-verbal in the advanced (later) stages of the disease.
Name some specific speech and language difficulties somebody with HD may have.
- impaired breathing for speech production
- hoarse, harsh, strained or strangled vocal quality
- Inappropriate rate, rhythm and pitch of speech
- Imprecise articulation
As well as the actual production of speech, what other area is also greatly affected by HD?
Cognitive and language skills.
Name some cognitive and language deficits people with HD can present with.
- Difficulty beginning conversation
- Lack of spontaneity in communication
- Difficulty putting thoughts into words
- Reduced number of words available to the person
- Limited ability to respond within conversation
- Specific word finding difficulties
- Difficulty understanding complex information
- Slow Response Time.
Why are abilities often unpredictable in HD?
Because deficits occur randomly during the general progression of the disease.
How many chromosomes do we have?
46 chromosomes (23 pairs)
On what chromosome is the faulty gene that causes HD?
Chromosome 4.
What does the normal gene on chromosome 4 do?
It produces a protein called Huntingtin.
What does the faulty gene on chromosome 4 produce?
It produces a mutant form of huntingtin.
What are extremely sensitive to the effects of hungtingtin?
Neurons in certain parts of the brain, especially parts of the cortex and the basal ganglia.
What does the mutated Huntingtin protein cause?
It causes neurons to die.
When diagnosing HD, what is often the problem with clinical symptoms?
The symptoms may represent other conditions eg. PD, MS early on.
What is used to diagnose HD, which can’t really be done for other conditions?
- Confirmation through genetic testing
- Family History
A __________ brain scan may also be carried out to diagnose huntington’s disease.
MRI
What is the rating scale commonly used for HD?
the Unified Huntington’s Disease Rating Scale.
Name the 4 domains of clinical performance that the Unified Huntington’s Disease Rating Scale assesses.
Motor
Cognitive
Behavioral
Functional
How is HD medically managed?
- Anti-psychotic medicaton/drugs to reduce amount of dopamine are used to reduce chorea
- Antidepressants (help depression)
Apart from medical management, how else is HD managed?
By Therapeutic Management.
Name the members of the multi disciplinary team involved with HD.
SLT
OT
Physiotherapy
Psychotherapy.
What is often difficult when working with HD?
- They can just flip and become really agitated/agressive etc.
- They can become quite forgetful- finding retrieval particularly difficult e.g. word finding and forming new memories
Dystonia is dysfunction in…
the basal ganglia, cerebellum, supplementary motor areas and sensorimotor cortex.
What are the causes of dystonia?
There are many causes, it can be acquired or inherited.
Wjat is the onset of dystonia?
Any age.
Dystonia can be ______ or ____________________.
Isolated, combined with another movement disorder.
Is dystonia progressive or non-progressive?
Dystonia can be progressive or non-progressive.
What is dystonia?
A motor disorder characterised by uncontrollable, excessive muscle spasms and contractions.
How can dystonia present?
It can present as twisting motions and awkward, unusual postures (really hunched all the way over).
What makes dystonia movement symptoms different from HD movement symptoms?
HD- movements more twicth like, jerky
Dystonia- twisted motions and awkward postiures aka. not as jerky, last longer
What can also be present with some types of dystonia?
Tremor.
Involuntary muscle spasms can be ______ or ____________.
Intermittent, sustained.
Diagnosis of dystonia is typically not _______.
Straightforward,
To determine appropriate treatment of dystonia, what is it important to establish?
It is important to establish the nature of dystonia. (primary or secondary)
Depending on individuals signs and symptoms, a number of tests may be required to confirm diagnosis. What could these include?
- MRI Scan (rule out brain damage or tumour)
- Genetic Test
- Urine and Blood tests.
Name the 3 subgroups of dystonia.
- Primary Dystonia
- Secondary/Acquired Dystonia
- Dystonia plus
What is primary dystonia?
When dystonia is the only neurological disorder the person has.
Cause is often unknown, but some genetic forms have been identified.
What is secondary/acquired dystonia?
-Dystonia that results from outside factors eg. another neurological condition like PD, trauma, medication etc.
Define dystonia plus.
When dystonia appears alongside symptoms from other neurological conditions, resembling another disorder.
Give and explain an example of dystonia plus.
Dopa-responsive dystonia
Symptoms resemble PD but individual doesn’t have progressive parkinson’s disease.
Name the 5 types of dystonia.
Focal Segmental Multifocal Generalised Hemidystonia.
What is the most common type of dystonia?
Focal.
What does focal dystonia affect?
- It affects a single region of the body
- Can be task specific e.g. writers cramp.
What type of dystonia affects two or more connected regions? e.g. hip, leg, foot.
Segmental dystonia.
What type of dystonia affects two or more unconnected regions? e.g. hip, arm
Multifocal Dystonia.
What type of dystonia can be quite disabling and why?
Generalised Dystonia.
It affects the trunk and at least two other parts of the body.
What does Hemidystonia affect?
It affects one side of the body entirely (eg. whole left side).
Name some medication to help manage dystonia.
Anticholinergics
Muscle Relaxantsa
Balcofen
Apart from drugs and surgery what else can help manage dystonia and why?
Botox (Botulinum Tocxin)
Injected into the affected area to reduce spasms (temporarily weakens muscles)
What surgery is performed to manage dystonia?
Pallidotomy (removing globus pallidus) -RISKY
Thalamotomy (removing thalamus) - RISKY
DBS (deep Brain stimulation)- helps but not sure why :)
_________ can feature secondary to other neurological conditions.
Dystonia.
What causes problems with swallowing?
Laryngeal Dystonia- causes the laryngeal muscles to spasm.
Apart from laryngeal dystonis, what other dystonia are SLT involved in?
Oromandibular dystonia
What does oromandibular dystonia affect?
It affects the lower facial muscles, tongue or jaw.
may result in motor control difficulties as well as swallowing difficulties.
