L14: Hyperkinetic Dysarthria Flashcards
7 main symptoms of hyperkinetic disorders
tremors
chorea
hemiballismus
dystonia
myoclonus
hemifacial spasms
tics
tremors
rhythmic involuntary movements involving the agonist/antagonist muscles of a single joint
rest tremor (4-6 Hz), postural and action tremors (4-12 Hz)
chorea
excessive spontaneous movements, irregularly timed, non-repetitive, randomly distributed, abrupt in character
Chorea = comes from coreography/dance
hemiballismus
wild flinging or throwing arm movements usually on one side only (very similar to chorea)
dystonia
sustained muscle contractions, frequently causing slow, twisting movements or abnormal postures [i.e., eye closure (blepharospasm), neck turning (torticollis), jaw closing, foot or hand postures]
focal, multi-focal or generalized parts of the body
some only occur during specific actions (i.e., writers cramp)
myoclonus
brief, muscle jerks
focal, multi-focal or generalized parts of the body
may be rhythmic or arrhythmic
palatal myoclonus: rhythmical palatal movements (2-3 per second), may disappear during speech (i.e., prolonged ‘ah’)
onset at 40-70 years, patients may hear clicking of Eustachian tube and feel pain
hemifacial spasms
brief twitches of the facial muscles
often begins in the eye region and spreads to involve other facial muscles including lips
adult onset, may be associated with bell’s palsy or 7th cranial nerve
tics
repetitive, brief, usually rapid purposeless stereotyped movements – occur at random intervals, can be suppressed for minutes to hours
motor tics: i.e., shoulder shrugs, facial gestures, tongue protrusion, head movements, hand gestures, repetitive touching, etc..
vocal tics: i.e., grunting, throat clearing, humming, barking, swearing (coprolalia), etc…
Gilles de la Tourette syndrome: onset and includes…
onset 2-15 years, present for at least 1 year
motor and vocal tics
hyperkinetic D can effect one or many…
need to…
speech subsystems (focal vs multi focal)
need to…
determine which subsystems & articulators are involved
determine the characteristics of the involuntary movements (chorea, dystonia, tremor)
fast versus slow or prolonged movements
predictable versus unpredictable pattern of movements
random versus non-random occurrence of movements
i.e., only during certain actions
rhythmic versus arrhythmic
severity of involuntary movements and extent of effects on normal speech production
describe chorea
fast, unpredictable, random and arrhythmic involuntary movements
last 1/10 to 1 second
occur at rest and during voluntary movements
voluntary movements may show irregularities in range, accuracy and rate due to the effects of involuntary movements
what are the 6 causes of chorea?
Huntington’s disease
Levodopa medication in Parkinson’s
focal lesions (tumours, CVAs)
hyperthyroidism
carbon monoxide poisoning
infections (sydenham’s chorea, usuallly after fever in children)
Huntington’s disease is a….
(prevalance? onset? death?)
chronic and progressive inherited disease
prevalence 5-8 per 100,000
onset at 35-40 years, complaint of restless limbs initially
death often within 15 years (aspiration/pneumonia)
describe the genetics of HD? how is it tested?
autosomal dominant (50% chance of children developing HD)
HD gene identified in 1993 by a collaborative group of 58 scientists from 6 centres (Cell, 72: 971-983)
there is now an accurate predictive DNA blood test for HD
the test involves counting the number of repeated C-A-G nucleotides in the HD gene
normal = 10-26; intermediate (unaffected) = 27-35;
reduced penetrance (possibly affected) = 36-39; full penetrance (will develop HD) = +40 CAG repeats (max 120)
greater number of repeats associated with earlier HD onset (+60 = juvenile HD)
HD involves damage to the….
problems with….
striatum (basal ganglia) and GABA neurotransmitter
personality/emotional and cognitive problems may occur early (in 30% of HDs these precede motor problems)
irritability, depression, paranoia, violence, emotional lability
30-40% depressed & 27% attempt suicide
drug therapy w HD is largely…
unsuccessful
neuroleptics (haloperidol, chlorpromazine) for chorea
antidepressants for depression
describe dystonia
slow and often sustained involuntary movements and postures
excessive muscle contractions (spasms) may last for 1-30 seconds
focal, multi-focal, or generalized
what are the 5 causes of dystonia?
idiopathic dystonia (most common form)
degenerative diseases (Parkinson’s, Huntington’s)
levodopa medication
head trauma, CVAs, anoxia, carbon monoxide, cyanide
postencephalitis
idiopathic dystonias are of … and usually involves….
unknown cause
probably involves damage to the basal ganglia and dopaminergic systems
5 types of idiopathic (focal) dystonia (including the 4 subtypes of the first type)
- Cranial
a) blepharospasm (eyelids)
b) oromandibular
c) laryngeal (spasmodic dysphonia)
d) pharyngeal (swallowing problems)
- Spasmodic Torticollis (neck)
- Truncal
- Writer’s cramp or hand dystonia
- Foot dystonia
childhood forms of focal/idiopathic dystonia have an onset of ___, start focal but most become _____
8 years
generalized
focal/idiopathic dystonia adults forms usually start and remain….
may progress in ….
remissions are…
how many cases in NA?
how many w family history?
focal (onset 42 years)
may progress in severity for 1-5 years but then stable for life
remissions very rare
100,000 cases of dystonia in North America
20% have dystonia in family history
dystonic movements are usually ______ induced and some only occur ______
often people use ….
dystonic movements are usually action-induced and some only occur during specific actions
(speech but not singing, writing but not other hand movements)
sensory tricks (i.e., touching a place on face or chin) may reduce or relieve dystonic spasms
describe oromandibular dystonia
slow, sustained involuntary movements of the face, lips, jaw, tongue and soft palate
may slowly wax and wane over 1-30 second periods
30-50% of oromandibular dystonia patients also have essential tremor (postural/action tremor)
