Neurology Flashcards
What is the cause of Huntington Disease
AD cause by mutation in the huntingtin gene (HTT) on CH 4 encoding trinucleotide repeat CAG
Genetic anticipation
Symptoms of HD
Generalised chorea
Dance-like jerky gait
Occulomotor symptom (eye blinking )
Pysch - depression, OCD, Aggression
WESTPAHL VARIANT - Coginitve decline, bradykinesia, rigidity
Investigation for Huntington dise
Genetic testing
CT scan or MRI - atrophy at caudate or putamen
Striatal atrophy and increase size of frontal horn of the lateral ventricles
DDx of Huntington disease
- Drug induced chorea - dopamine, stimulants, anti-convulsatns
- Sydenham chorea
- benign hereditary chorea
- senile chorea
- Post infectious
- wilson diease *
- SLE *
- Small cell lung cancer - paraneoplastic syndrome
- Ant-phospholid
Management of HD
MDT MDT
neurologist
neuropsychiatrist - mood and cognitive disturbance.
dieticians - involuntary movements increased basal metabolic rate, and can be helpful to ensure they’re having sufficient calorie intake
OT /PT - improve strength and function
what are the clinical signs of raised ICP
Pappilodema
3rd nerve palsy
field defect
what clinical features are suggest immune-mediated neuropathy
- waxing and waning
- history of symptoms starting in the hands, trunk or face would be clear evidence of non-length dependency
- prominent sensory ataxia – usually described as balance problems worse in the dark or with eyes closed.
what is pseudo athetosis?
– this is when a patient’s hands and fingers develop involuntary writhing-type movements when the eyes are shut.
Evidence for sensory ataxia
what are the causes of cerebellar ataxia ?
ACUTE
1. vascular ( ischaemic or haemorrhagic ) - ipislateral
2. Cerebellitis - varicella
3. Autoimmune causes
CHRONIC
alcohol
nutritional deficiency
genetic conditions
previous surgery/trauma
what are the cranial nerve signs of cerebellar
nystagmus
staccato speech
head tremor
truncal ataxia.
Signs in charcot marie tooth
Pes cavus
foot in plantar flextion
muscle wasting
motor and sensory neuropathy
what investigations would you send for myasthenia gravis ?
- acetylcholine receptor antibodies.
- anti-muscle specific kinase
- nerve conduction studies and electromyopathy (EMG) with repetitive stimulation.- decremental effect on the action potentials.
management of myasthenia gravis
- pyridostigmine
- CT chest - thymoma - consider removal
- Immunosupression - steriod
- IVIG
There is a phenomenon referred to as the ‘steroid dip’ - whereby patients with Myasthenia may get paradoxically worse with institution of steroid therapy –
causes of sensory neuropathy
- Diabetes
- Metabolic cause
Hyperthyroidism
uremia
Vitamine deficiency: vitamin B1, vitamin B6 and vitamin B12. - toxic
chemotherapy
alcohol - Inflammmatory
o chronic inflammatory demyelinating polyneuropathy (CIDP)
o sarcoidosis
o ANCA positive vasculitis
o rheumatoid arthritis - paraneoplastic cause
what does romberg posiitve mean
sensory ataxia
how would you investigate sensory neuropathy
Bedside
* Ophthalmoscopy looking for any evidence of a diabetic retinopathy could be conducted. * Urinalysis looking for glucose in the urine could also be explored.
* Blood glucose measurement should also be considered
Bloods
1. FBC: macrocytic anaemia
2. U&E checking the patient’s urea level
3. liver function tests (LFTs) as there could be some derangement of transaminases in alcohol use.
4. HbA1C
- Others
thyroid function,
vitamin B12
auto immune inflammatory conditions with a measurement of an erythrocyte sedimentation rate (ESR)
immunoglobulins and serum electrophoresis.
Management of GBS
Non- pharmacolgical tx
1. Monitor respiratory function
2. Cardiac montior
3. VTE prophylaxis
ACUTE
1. IVIG - check for IgA deficiency
2. Plasma exchange
3. mechanical ventilation
Chronic
Ventilatory support
what do you look for in Charcot-Marie-Tooth disease
Inspection : ankle foot orthoses, wasting (distally ), foot in plantar flexion.
High steeping gate ( foot drop )
Motor and sensory neuropathy
Flacid tone
reduced power - distally
reflexes even with potentiation
How would you investigate and manage Charcot-Marie-Tooth disease?
Neurophysiology - severe and uniformly reduced responses
Genetic counselling
MDT
Pain management for neuroopathic pain
PT - gait and mobility
OT hand weakness and fine motor skills.
how do you differentiate cerebellar from sensory ataxia ?
Cerebellar ataxia would usually be accompanied by nystagmus and dysarthria.
Sensory ataxia would be associated with impaired sensation, especially for the modalities of joint position and vibration.
Management of MND
patient-centred and involves an entire multidisciplinary team.
Drug treatment with Riluzole
specialist nurses, OTs, and physios, speech and language
Respiratory function - NIV
clinical findings of spastic paraparesis?
increase tone,
ankle clonus,
brisk reflexes
mild weakness
what are the presenting features of acoustic neuroma ?
Unilateral sensory loss
TINNITUS
unsteadiness
Next - trigeminal
Facial pain and sensory loss
Next Facial - Facial weakness
what are the causes of occulomotor palsy and Ix
DM
Head trauma
compression of nerver by anuerysm -pCOM (painful)
Tumour
venous thrombosis
Investigation
Fasting glucose &HbA1c
ESR, ANA, ENA,ANCA
MRI brain
