Muscle and nerve disease Flashcards
waht are the common presentation of a muscle disease
weakness of skeletal muslces
cardiac symtoms including cardiomyopathy and arrhythmias
cramps and muscles pain
myoglobinuria - muscle break down which is seen as a dark urine
in children flopp/ poor suck/ feeding and failure to thrive
what are the common signs of muscle disease
muscle atrophy
hypertrophy
weakness
what are the investigations for muslce disease
bloods - mainly creatine kinase
electromyography
muscle biopsy -
electromyography
genetic testing
causes of muscle disease genetic
contractile - congential myopathies
structural - muslcar dystropies
coupling - channelopathies
energy - metabolic myopathies
what are the aquired types of msuclar disse
electroyle disturbace
endocrine - including thyroid, adrenal vit d
autoimmune - inflmatiory muscle disease
latrogenic - medication
what is the presentation of infmatlor muscle disease
painflud muscles
rash
causes of inlmtaory msules deiase
tumours - which can be too small to see
autoimmue
what is the presnation of myatheisa gravis
ptosis of eyes
dysfuciton of muslces of the eyes leading to diplopia
what are the generalised signs of myasthenia gravis
limbs, bulbar - including chewing swallow and talk
breathign
investigationf for myasthenia gravis
ach receptor or anti musksk antiboides
neurophysiology
ct chest
treatment for myasthenia grais
cholinesterase inhibotrs - preveing break down of acethy chokle, meing more can bind to the junction, being contiaon are more likely
disease modithiying - immuoglobulin/ plasma exchange, steroids, steroid sparing immunosupression, thymectomy
phsolgy of mylathies
autoimmune condtion that cuase the blockage of the achetly recpotrs, prevign muscle contraction
what are the cuaes of peripharl nerve diseaes
A – Alcohol
B – B12 deficiency
C – Cancer (e.g., myeloma) and Chronic kidney disease
D – Diabetes and Drugs (e.g., isoniazid, amiodarone, leflunomide and cisplatin)
E – Every vasculitis
I - infectious - lyme hiv and lepropy or inflamtory- autoimmune
Root disease
lesion on an induclat neruosn
genralied periopahgy neruothy
automine types of peroy neruophy
gulillan bare syndome
chonci inflmatory demylating polyneuropny
symptoms of peripla nerve diseas
sensory - loss of sensation, abnomal sension, pain
motor - muscle wasting/ thining, weakness
autonomic - skin changes, blood press, bowl and bladder issues
sings of peripheral nerve disease
sensory
motor - lower motor neruon
distriubution - root, single nerve, generlised nerve - distal first
investigations for periphal nerve diese
blood tests
nerve conducion studies
lumbar puncture
nerve biopsy
genetic anyalis
treatmetn fo rperial nerve disese
stop drugs, surgy, treat cancer, immunoglobulins
symtoms of upper motor neuron disease
spacisity, brikk reflexs and externos plantors
symtons of lower motr nros diseas
muslse fascicuation, wsatin and weakenss
what is hte prognoties of motor neruo disease
poor - most poele are dead with 3 - 5 years of symtomps
diagnoiss of motor neuron disase
electromyography - shows widepread denervation
has combiton of umn an dlmn signs
treatment for motr neuron disase
supportie, physo adn peg feeding
riluzole- glutamate antagoins
Benzodiazepines - for breathless and anxiety
myleapathy
spinal cord injury - leading to certian signs
radiculopaty
damage to the nerve routes of the spinal cord where they leave
what is guliane barre sydnoem
where b cells attack protiens on the mylein sheath leading to damage of the nerve
how long doe guliant are sndoem las
a few months then there is recovery
signs of guliante barre syndoem
reduced reflexes
ascending weakness
diagnosis for guillane barre sydrome
lumbar punctyre and nerve conduction studies
management of guillane barrre sydndrome
upportive care
VTE prophylaxis (pulmonary embolism is a leading cause of death)
IV immunoglobulins (IVIG) first-line
Plasmapheresis is an alternative to IVIG
