Extra 2 Flashcards
Defect in MND
anterior horn cell loss
sclerosis of lateral and anterior CS tracts on MRI
cord atrophy and gliosis
loss large myelinated fibres and skeletal muscle atrophy
gene for FTD/MND overlap
C9ORF72
TDP43
more common in familial ALS than sporadic
NCS for CMT
type 1 (AD/x linked)- demyelinating; PMP-22 gene duplication type 2- axonal
Reflexes in GBS
decreased
Miller fisher triad
hypo reflexia
ataxia
external ophthalmoplegia
G1Qb ab
If over 50 ooo lymphocytes in GBS on LP think
GBS with HIV seroconversion illness
How is EMG helpful in GBS
if denervation changes after 2-4 weeks, worse prognosis
FVC cut off for ICU in GBS
FVC under 20 ml/kg
if under 15 then tube
Steroids in GBS? CVID?
Yes in CVID no in GBS
CVID steroids work acutely but dont induce remission
IVIG and PLEX more likely to induce remission not work acutely
AZA refractory
What is DADSM
distal acquired demyelinating symmetric neuropathy
elderly males distal sensory loss, MILD distal weakness areflexia loss vib sense pos rhombergs profound ataxia assoc falls
distal latencies increase on NCS
IgM paraproteinaemia in 2/3- anti MAG
cannot PLEX off IgM- try ritux
good ways to distinguish myasthenia from other things
weakness fluctuates unlike MND- botulism has pupil involvement in half
NEVER pupil involvement
NO sensory loss or reflex loss, no sphincter disturbance
check for penicillamine exposure in Wilsons or RA- can induce ACh R ab
what drugs worsen myasthenia
quinolones
beta blockers
aminoglycosides
what ab expect in MG with thymoma and young
anti striated muscle ab
How do you predict who will respond to thymectomy (obviously all thymomas get taken out)
Ach R ab positive under age 60 not if anti MUSK Anti myosin AB assoc with thymoma in 94% If under 40, PPV 50% if anti striated and aACh R postiive NPV ACHR always good any age
Role of plex in MG?
or IVIG
servere exac or pre op
mitochondrial myopathy biopsy
ragged red fibres
eg 50 year old woman with years progressive weakness with ptosis and EOM problems all directions
Bortezomib describe sensory loss
painful sensory axonal
or motor more than sens
spinal mets and not known to have cancer
usually lung cancer- EXTRADURAL positioning
occasionally breast
L4 L5 disc pings…
L5 (L4 travelling too laterally)
remember this is the corda
Which bits brain in PD
Reduced dopaminergic neurons in the striatum projecting to GP and SN
Hence increased inhibitory output from these places.
PD with cog imp vs AD
no language involvement early in PD- if this think AD
DBS stilumates
Thalamic: usually for drug resistant Tremor
pallidotomy: dyskinesias
Subthalamic: resistant fluctuations or Severe off phase disability, reduces the dyskinesias
Which one of the PD drugs risks increasing motor fluctuations
MAO-B eg silegiline
