Movement Disorders Flashcards
Disorders that result in too much, or unwanted/distorted, movement are labelled
Hyperkinetic
Disorders that result in too little movement are labelled
Hypokinetic
Parkinson’s disease is labeled what type of movement disorder
Hypokinetic
Parkinson’s is the second most common neurodegenerative disorder behind alzheimers
ok
prevalence of parkinsons
100 per 100,000
But 2% of ppl over 60.
Young onset parkinson disease likely to be genetic in origin
ok
Typical age of onset between
55-65
Motor features of PD are initially….
Asymmetric
4 cardinal motor features of parkinsons
- Tremor at rest
- Rigidity
- Bradykinesia
- Postural instability late
If you see an individual with parkinsonism develop postural instability early, what do you think…
Not Parkinson dz most likely
Other PD features
- Masked face
- Diminished blink
- stooped posture
- small shuffling gait
- reduced armswing
hypokinetic dysarthria
micrographia
Behavior features of PD
- Depression
- Anxiety
- Cognitive impairment in PD is characterized by executive dysfunction…individuals have trouble making decisions and carrying out plans
Autonomic dysfunction and PD
- GI dysfunction in the form of constipation
- Urinary dysfunction
- Dysphagia (trouble swallowing)
- Erectile dysfunction
- Impaired BP regulation
- Orthostatic HTN
Other features of parkinsons
- Impairment of olfaction
- Blurred Vision
- Pain in the shoulder
- Sleep fragmentation
- REM sleep behavior disorder in which individuals retain the ability to move during dreaming
Classic pathologic abnormality is
- Degeneration of Pigmented Neurons which have their cell body in the substantia nigra pars compacta
- microscopically, cytoplasmic inclusion bodies called Lewy bodies can be seen in the surviving pigmented neurons within the substantia nigra and elsewhere.
Neurochemical hallmark of PD=
Dopamine deficiency
Age of onset of Progressive Supranuclear Palsy?
50-60 (five years younger that PD
Life expectancy of pt with PSP
10 years
Parkinsonian features of PSP
- mostly rigidity and bradykinesia
Axial musculature is especially likely to be involved (may sometimes result in neck extensions)
What is the facial masking like in PSP
ASTONISHED
Gait and balance disturbances along with postural instability appear when in PSP
Early- thats how you differentiate from PD
Tremor is generally seen in PSP?
NO!!! unusual
What is the feature of PSP that ultimately permits diagnosis?
Impairment of downgaze, then up, then over….PD usually shows impairment of upgaze.
Neurofibrillary tangles?
PSP
Neurochemical features of PSP
Striatal Dopamine Deficiency
Multiple System Atrophy typical age of onset
50-55
Life expectancy in MSA
5-10 years
What does MSA look like initially?
A lot like PSP…rigidity and bradykinesia first, balance and postural instability come on fairly early as well, tremor is unusual
Clinical hallmark of MSA
Progressive autonomic dysfunction
- Orthostatic HTN most widely recognized
- Urinary dysfunction
- Impotence
Glial cytoplasmic inclusion bodies positive for synuclein also seen in MSA
yeah
Huntington’s dz is genetic or non-genetic?
Genetic
What is the genetic mutation in huntington’s disease and where does it reside?
HTT gene, resides on the short arm of chromosome 4
The mutation in huntington’s disease is a trinucleotide repeat (CAG)
ok
What is the typical age of onset of Huntington’s dz?
35-45
Life expectancy after symptom onset in huntingtons
10-20 years
What is teh neurologic hallmark of huntingtons
CHorea— jerky dance like movement
How do the symptoms of early onset huntingtons differ from late onset?
Early onset Huntington’s disease is characterized by the onset of parkinsonism rather than chorea right from the onset
WHat type os behavioral changes occur in HD?
- Personality changes (impulsiveness, irritability, obsessive behavior, aggression)
- Depression
- Dementia
Tourette’s syndrome average age of onset and sexual disposition
male predominance, symptom onset between 2-15yoa
Tourette’s syndromes often diminish when?
adulthood
Diagnostic criteria of tourettes
must have multiple motor tics and at least one vocal tic present at some point throughout the day.
Tics must occur many times a day, every day, or intermittently over the course of a year, Must have no tic free period of greater than 3 mos.
Onset prior to 18
What are some of the behavioral features of Tourettes
ADHD in around half of those affected.
OCD in 30-50%
What is dystonia
sustained muscle contraction that produces sustained and sometime repititious twisting movements that result in abnormal postures.
Dystonia can be classified as?
Primary or secondary
Focal or generalized
Primary Generalzed Dystonia cause
Mutation of DYT1 gene on chromosome 9, GAG deletion and altered Torsin A protein
Primary Generalized dystonia is most common in families with what kind of heritage?
Ashkenazi jews
Inheritance pattern of Primary Generalized Dystonia?
It is autosomal dominant but ht epenetrance is only 30-40% which means that most individuals with the disease may never develop dystonia
Onset of primary genralized dystonia is usually focal
ok
Dromedary gait?
Seen with PGD
In contrast to generalized dystonia, when does focal dystonia appear
adulthood
Focal dystonia generally affects muscles where
above the waist
Some focal dystonias are task specific in that they only become active when the affected individual is performing a certain motor action or task such as writing or playing the guitar.
Sensory tricks can sometimes alleviate the dystonia.
Wilson’s disease mutation
long arm of chromosome 13, ATP7B gene ( the product of this gene is a copper transporting ATPase that generally helps form ceruloplasmin in the liver). Copper accumulates in the liver and ultimately is deposited in organs like the brain.
Most common neurological manifestation of Wilson;s disease is
Tremor
Psychiatric features of Wilson’s disease
personality change, depression, mania, psychosis, etc..
Opthalmologic abnormalities with WD
Kayser Fleischer rings and sunflower cataracts
Oplaski cell
ALtered glial cell that can be found in basal gangla of individuals with WD.
