NP: Lecture 12 Motor Disorders II Flashcards
eerste case van huntington
First described by practitioner George Huntington in 1872, he
described in detail the clinical picture of this
disease in a number of families who had
probably fled Europe because of the stigma
(and persecution) resulting from the idea that
they were ‘possessed’.
It was clearly a disease with dramatic symptoms
and a genetic basis (Gregor Mendel, 1865).
huntington kenmerken
progressive neurodegenerative disease
autosomal dominant inheritance
too many CAG repeats on chromosome 4
hoeveel repeats per severity
- mild: 36 < CAG > 39
- severe: CAG > 40
incidence hd
60 cases per year nl
onset hd
between 30-40
kijken naar plaatje dna bij huntington
oke
Since 1993 it is possible to determine with a DNA
test whether someone is a mutation carrier, even
before the first symptoms of the disease appear.
oke
waar is degeneration bij hd
in basal ganglia, vooral striatum (caudate nucleus and putamen)
waar leidt deze degeneratie toe
interruption of the circuitry for controlled motor behaviour
hoe leidt de repeats tot hd
teveel CAG repeats -> gene abnormality -> altered function of protein huntingtin -> extensive cortical + subcortical atrophy in caudate nucleus
dyskinesias =
verzamelnaam voor involuntary movements
wat voor motor symptoms bij hd
chorea
impaired gait, posture and balance
dystonia
rigidity
difficulty speech
difficulty swallowing
chorea =
involuntary movements, lijkt op dansen
dystonia=
disturbed muscle tone -> muscles start to contract involuntarily
cognitive symptoms of hd
reduced mental speed
attention deficit
executive syndrome
perseverance of thoughts and actions
memory problems
perception
language production
poor insight
reduced mental speed wat is hier mee
vaak het eerste symptoom
lastig te onderscheiden van motor problems
executive syndrome symptoms
mental rigidity
impaired inhibition and flexibility
loss of initiative
planning
memory problems in hd
at first mainly due to attentional and EF problems
learning and remembering
semantic memory intact
perception
basic visual functions such as shape matching
language production problem
fluency, hypophonia (zacht praten) en dysarthria (mainly secondary to motor problems, = moeilijk praten)
wat blijft intact van language bij hd
wordfinding and grammar
affective and psychiatric symptoms
- Depression
- Apathy
- Anxiousness (increased risk suicide)
- Irritable
- Loss of decorum
- Compulsive thoughts and actions
- Psychotic behaviour (relatively rare)
diagnostiek
- Motor rating scales: e.g. Unified Huntington’s Disease
Rating Scale - Neuropsychology: cognitive impairments
- Questionaires: affective en psychiatric questionnaires
diagnosis hd is based on
(1) a family history of Huntington’s disease,
(2) a positive DNA test,
and (3) a gradual onset on (subtle) motor problems.
treatment of hd
no cure, maar verlichten van symptoms:
* antidepressants (SSRIs) and sometimes antipsychotic medication (benzodiazepines)
* occupational therapy
* speech and language therapy
* physiotherapy
juvenile hd if..
.the disease starts before 20
3 phases of hd
- Initial phase of behavioral disorder, learning difficulty, gait disturbance, and mild chorea
- A florid phase with signs of mental deterioration, rigidity, speech disturbance, and seizures
- A terminal phase of bed confinement, hypotonia and increasing seizures
the younger the age of onset of HD…
the shorter the survival
relationship between repeats and disease onset
There is an inverse relationship between the number of
CAG repeats and the age of disease onset: the higher
the number of cag repeats, the lower likely will be the
age at which the disease manifests clinically.
dus meer repeats = eerder (en ook eerder overlijden)
Huntington’s disease life expectancy
Time from the first symptoms to death is on average between 15 to 20 years
parkinsons disease kenmerken
Substantia nigra
Reduced motor behaviour (akinesia, bradykinesia, masked
face)
Limited genetic basis
High prevalence
huntingtons disease kenmerken
Striatum (putamen, nucleus caudatus)
Increased motor behaviour (hyperkinesia,
chorea)
Single gene genetic basis
Low prevalence
both pd and hd…
may lead to dementia
door wie was ms gevonden
Jean-Martin Charcot; grandfather of neurology. In 1868
he published a report of a woman with three progressive
symptoms: tremor, poor articulation, and double vision.
ms kenmerken
Progressive disease of the brain and spinal cord
- autoimmune disease: the immune system attacks the myelin sheath that covers nerve fibers and causes inflammation
- in people with a genetic disposition: first degree relatives have a 10-fold change of developing the disease
lesions in spinal cord
somatosensory perception in limbs
lesions in optic nerve
visual problems
lesions in brain stem and cerebellum
decreased power and motor coordination
lesions in brain
cognitive and emotional impairments
dus waar zitten de lesions meestal
spinal cord
optic nerve
brainstem and cerebellum
brain
rrms
- periods of new symptoms or relapses that develop over days or weeks and usually improve partially or completely
- relapses are followed by periods of disease remission that can
last months or even years.
kijken naar model verschillende disease courses ms
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wat voor damage in the brain bij ms
demyelination and inflammation -> atrophy
je ziet sclerae -> plaques or lesions in WM
diagnosis at early stages of ms
Peripheral: electrophysiology -> measure transmission time over a
long axon with evoked responses
Central: TMS -> measure difference in transmission time between
stimulation over de motor strip and over the spinal cord
consequences of ms disease
heel veel,
in cns, throat, sensation, urinary system, visual, speech, muscluloskeletal, bowel etc.
kijken naar model van alle symptomen van ms
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scale for the progression of ms
expanded disability status scale (EDSS)
ms prevalence
- About 2,500,000 people in the world
- About 200 per 100.000
- Higher proportion of women: 2 to 3 women for 1 man
- Uneven distribution around the world (increases if you
move away from the equator?) - Environmental factors?
sensory-motor symptoms of ms
- numbness or weakness in arm and/or leg -> on one side of your body at a time
- electric-shock sensations -> bending the neck forward (Lhermitte sign)
- tremor
- lack of coordination or unsteady gait
- fatigue
visual symptoms of ms
partial or complete loss of vision, usually in one eye
cognitive impairment in ms
- Recent research shows that about 45 -70% of
patients suffer from cognitive impairment. - However, only 5-10% develop dementia. If this
happens it concerns a frontal-subcortical type of
dementia.
wat voor soort cognitive impairments
- Bradyphrenia (slowness of thought)
- Memory impairment
- Retrieval problem with intact recognition
- Slowly decreasing working memory
- Impaired learning
- Attention and concentration problems (PASAT)
- Dysexecutive syndrome (less pronounced)
- Language deficits (word-finding and slurred speech)
affective problems of ms
- depression (25 – 55 % and about 50% of MS
patients experience one episode of depresion) - severe risk of suicide (15% of death in MS)
treatment ms
no cure
- treating relapses of MS symptoms (steroid medication)
- treating specific MS symptoms, for instance:
- fatigue (amantadine, exercise, keeping healthy sleep pattern)
- cognitive problems: neuropsychological training programme’s
- treatment to reduce the number of relapses, for instance, subcutaneous interferon beta-1a (IFN β-1a) and dietary regimes
prognosis of ms
*chance of walking unaided after 15 years following disease onset is 50%.
* frequency of death by suicide is about 7.5 times higher compared to the general population.
* average life expectancy is 25 to 35 years after the diagnosis
* most common causes of death in MS patients are secondary complications resulting from immobility, chronic urinary tract infections,
compromised swallowing and breathing Multiple Sclerosis
favorable factors for ms
female
low rate of relapses
complete recovery from first relapse
long interval between first and second attack
symptoms predominantly from afferent systems (sensory)
younger age of onset
low disability at 2-5 years from the disease onset
later cerebellar involvement
involvement of only one cns system at the time of onset
