Neurodegenerative Diseases + Movement Disorders Flashcards
Sx of parkinsonism, including:
* Triad
* Non-motor features
Triad:
1. Bradykinesia
2. Asymmetric “pill-rolling” tremor
3. Lead pipe rigidity
Non-motor:
* Olfactory loss
* Sleep disorders
* Psychiatric (depression, anxiety, etc)
* Autonomic dysfunction - constipation, postural hypotension
Ix for Parkinson’s?
- Clinical diagnosis: +ve response to tx trials - failure to respond to 1-1.5g levodopa excludes diagnosis of parkinsonism
- Other: MRI head
Tx of parkinsons
1st line: Levodopa + decarboxylase inhibitor (cobeneldopa)
S.E. hypotension, restlessness, GI upset
2nd line:
* COMT inhibitirs
* DA agonists
Levodopa - dopamine replacement agent
Complications of Parkinson’s?
Depression and anxiety
What is benign essential tremor?
Cdtn associated with older age characterised by a fine tremor affecting all voluntary muscles
Sx of essential tremor?
Fine tremor (6-12 Hz)
Symmetrical
More prominent with voluntary movement
Worse when tired, stressed or after caffeine
Improved by alcohol
Absent during sleep
Mx of essential tremor?
Meds used to improve sx:
* Propranolol
* Primidone
Primidone is a barbiturate anti-epileptic medication
What is MS?
Chronic autoimmune disease ivolving CNS which is marked by degenration of the insulating covers of nerve cells in the brain and spinal cord leading to demyelination and axonal loss.
Causes of MS
Unknown but may be influenced by:
EBV
Low Vit D
Smoking
Obesity
Sx of multiple sclerosis
Sx progress over more than 24hrs. Then last days to wks and then improve:
* Sensory disease (numbness, paraesthesia, trigeminal neuralgia, Lhermitte’s sign)
* Focal weakness (urinary incontinence, horner syndrome, limb paralysis)
* Optic neuritis (loss of central vision + painful eye movement)
* Internuclear opthalmoplegia (diplopia and nystagmus)
* Subacute cerbellar ataxia
* Uhtoff’s phenomenon
- Optic neuritis = demyelination of the optic nerve
- Lhermitte’s sign describes an electric shock sensation that travels down the spine and into the limbs when flexing the neck.
- Uhtoff’s - worsening of sx following inc. in temp i.e. hot bath
What are the different patterns of MS?
- Relapsing-remitting: MC - episodic flare ups (days/mths) followed by remission periods
- Secondary progressive: Starts as relapsing-remitting then progresses to no periods of remission + worse sx
- Primary progressive: Sx worse from onset with no periods of remission
What are the imaging findings for MS and what are the results of a lumbar puncture?
MRI brain + spine - Dawson’s fingers (periventricular plaques)
Lumbar puncture - oligoclonal bands in CSF
Which criteria is used for diagnosis of MS?
McDonald criteria
Describe acute and chronic tx of MS
Acute:
* 1st line - IV methylprednisolone (reduce relapse duration)
* Plasma exchange (if does not respond to steroids)
Chronic:
* 1st line - Beta-interferon (DMARD) and glatiramer
* Biologics (natalizumab)
- For spascticity give - baclofen or gabapentin (1st line)
- For fatigue - amantadine
- For oscillopsia (visual fields appear to oscillate) - gabapentin
What is Huntington’s disease?
Genetic disorder that causes progressive breakdown of nerve cells in the brain. It is a trinucleotide repeat disorder.
Sx usually begin aged 30-50 yrs.
Trinucleotide repeats refer to repetitions of a sequence of three nucleotides (e.g., CAGCAGCAGCAGCAG).
What kind of genetic inheritance is Huntington’s disease? Where does the mutation occur and on which gene?
Autosomal dominant. Genetic mutation in HTT (huntingtin) gene on chromosome 4.
What is meant by anticipation in relation to Huntington’s disease?
Huntington’s displays something called genetic anticipation. Anticipation is a feature of trinucleotide repeat disorders, where successive generations have more repeats in the gene, resulting in:
Earlier age of onset
Increased severity of disease
Sx of Huntington’s disease?
Triad:
1. Choreoathetosis - involuntary, random, irregular and abnormal body movements, dystonia, rigidity, dysphagia and dysarthria
2. Cognitive impairment - dementia and memory problems
3. Psychiatric abnormalities - depression, irritability and sometimes psychosis
Choreoathetosis is a movement disorder that causes involuntary twitching or writhing.
Ix for Huntington’s?
MRI/CT brain - striatial volume loss
Genetic testing
Mx of Huntington’s and prognosis?
- Chorea mx - tetrabenazine
- Depression mx - SSRIs
- Extensive counselling
Prognosis = Poor. Life expectance is around 10-20 years after the onset of symptoms. Death is often due to aspiration pneumonia. Suicide is also a common cause of death.
What is Motor Neuron Disease (MND)?
A group of progressive neurological disorders that destory motor neurons (the cells that control voluntary muscle activity such as speaking, walking, breathing and swallowing.
Sx of upper and lower motor neuron signs
UMN:
* Inc. tone or spasticity
* Brisk reflexes (hyperreflexia)
* Upgoing plantar reflex (+ve babinski)
LMN:
* Muscle wasting
* Reduced tone
* Fasiculations (twitches in the muscles)
* Reduced reflexes
* -ve babinski
Ix for MND?
Clinical dx but can do:
* TFTs
* Protein electrophoresis
* MRI brain and spinal cord
Tx for MND and prognosis?
Riluzole - extends life expectancy by 3 mths.
The prognosis for motor neuron disease is generally poor, with life expectancy from diagnosis usually less than 5 years. Most patients succumb to the respiratory complications of the disease.
