Autoimmune Neurological Disorders Flashcards
define myasthenia gravis
an autoimmune disease with antibodies directed against nicotinic acetylcholine receptors on post-synaptic muscle membrane
cause of myasthenia gravis
presence of IgG1 and IgG3 antibodies that attack ACh receptors, causing post-synaptic membrane destruction that leads to muscle weakness and easy fatiguability
risk factors of myasthenia gravis
genetic markers (e.g HLA) FH of autoimmune disease cancer targeted therapy
clinical features of myasthenia gravis
weakness of limb, facial, bulbar and extra-ocular muscles that worsens after prolonged movement/end of day
e.g. drooping eyelids and diplopia
issues smiling, chewing and swallowing
signs of myasthenia gravis
fatiguable muscle weakness bilatera ptosis myasthenic snarl head droop bulbar features
investigations of myasthenia gravis
bloods (FBC, U+Es, TFTs, serum ACh receptor antibody + muscle specific tyrosine kinase antibody)
CT chest + CXR
nerve conduction studies
conservative management of myasthenia gravis
regular neurology review + MDT input
medical management of myasthenia gravis
anticholinesterase inhibitors (e.g. pyridostigmine)
surgical management of myasthenia gravis
thymectomy if patient presents with thymic hyperplasia or thyoma
acute management of myasthenia gravis
steroids
if resistant: IV immunogobulins and plasmapharesis
side effects of anticholinesterases in myasthenia gravis
diarrhoea
salivation + lacrimation
urinary frequency
define Charcot-Marie Tooth syndrome
a group of genetic peripheral neuropathies that affects both sensory and motor nerves
describe types of Charcot-Marie Tooth syndrome
type 1 = demyelinating
type 2 = axonal
clinical features of Charcot-Marie Tooth syndrome
gradual onset of symptoms
loss of balance
foot deformities
weakness
signs of Charcot-Marie Tooth syndrome
weakness atrophy hyporeflexia/areflexia sensory loss nerve enlargement
