neuromuscular disease part 2 Flashcards
what is the autoimmune neuromuscular junction ndisease ?
myasthenia gravis
what is the paraneoplastic neuromuscular junction disease ?
lambert eaton myasthenic syndrome
what infection could cause an affection to the neuromuscular junction ?
botulism
what antibodies are present in a patient with mmyasthenia gravis ?
antibodies against nicotinic acetylcholine receptor AChR
what is the presentation with myasthenia gravis ?
fatigable weakness symptoms get worse throughout the day muscle weakness with exersice proximal muscle weakness ptosis, dysphagia, opthalmoplegia
what is the management for myasthenia gravis ?
multidisciplinary
pyridostigmine
CT chest to look for thymoma
immunsuppression
what are the two types of myopathy ?
hereditary and acquired
what is the clinical picture of myopathy ?
weakness is usually proximal
theres more weakness rather than wasting
reflexes are normal
CK is elevated
what is the most common muscle dystrophy ?
duchenne muscle dystrophy
what is the genetic inheritance in duchenne muscle dystrophy ?
x-linked recessive
what is the pathogenesis in duchenne muscular atrophy ?
complete absence of dystrophin gene
what is the pathogenesis in becker’s muscular atrophy ?
short proteins that function partially
what is the most common adult onset muscular dystrophy ?
myotonic dystrophy ( multisystem disorder)
what are the types of myotonic dystrophy ?
type 1
type 2 PROMM
which type of myotonic dystrophy shows anticipation ?
type 1
which type of myotonic dystrophy is milder ?
PROMM
what is FSHD ?
facioscapulohumeral dystrophy
facial
scapular winging, elevation of the scapula is characteristic , deltoid is spared
humeral affection
what are the types of inflammatory myopathies ?
dermatomyositis
polymyositis
inclusion body myositis
what is dermatomyositis associated with in adults ?
malignancies
what is the presentation for dermatomyositis ?
Helitrope rash
Guttrons papules
what is the pathogenesis in dermatomyositis ?
b cell mediated antibody production against capillary membranes leading to vasculitis
what is the presentation of polymyositis ?
proximal weakness
elevated CK
no rashes
the diagnosis is made by exclusion
what is the pathogenesis in polymyositis ?
CD8 t cell mediated attack on muscle cells
what is the presentation like in inclusion body myositis ?
proximal and distal weakness
what is the response to immunosuppressive in inclusion body myositis ?
non responsive to immunosuppressives
what treatment is available for Duchenne muscular dystrophy ?
deflazcort
exon skipping therapy
what is the most common cause of death in Becker ?
cardiomyopathy
