neuromuscular disease part 2

Question 1

what is the autoimmune neuromuscular junction ndisease ?

Answer 1

myasthenia gravis

Question 2

what is the paraneoplastic neuromuscular junction disease ?

Answer 2

lambert eaton myasthenic syndrome

Question 3

what infection could cause an affection to the neuromuscular junction ?

Answer 3

botulism

Question 4

what antibodies are present in a patient with mmyasthenia gravis ?

Answer 4

antibodies against nicotinic acetylcholine receptor AChR

Question 5

what is the presentation with myasthenia gravis ?

Answer 5

fatigable weakness 
symptoms get worse throughout the day 
muscle weakness with exersice 
proximal muscle weakness 
ptosis, dysphagia, opthalmoplegia

Question 6

what is the management for myasthenia gravis ?

Answer 6

multidisciplinary
pyridostigmine
CT chest to look for thymoma
immunsuppression

Question 7

what are the two types of myopathy ?

Answer 7

hereditary and acquired

Question 8

what is the clinical picture of myopathy ?

Answer 8

weakness is usually proximal
theres more weakness rather than wasting
reflexes are normal
CK is elevated

Question 9

what is the most common muscle dystrophy ?

Answer 9

duchenne muscle dystrophy

Question 10

what is the genetic inheritance in duchenne muscle dystrophy ?

Answer 10

x-linked recessive

Question 11

what is the pathogenesis in duchenne muscular atrophy ?

Answer 11

complete absence of dystrophin gene

Question 12

what is the pathogenesis in becker’s muscular atrophy ?

Answer 12

short proteins that function partially

Question 13

what is the most common adult onset muscular dystrophy ?

Answer 13

myotonic dystrophy ( multisystem disorder)

Question 14

what are the types of myotonic dystrophy ?

Answer 14

type 1

type 2 PROMM

Question 15

which type of myotonic dystrophy shows anticipation ?

Answer 15

type 1

Question 16

which type of myotonic dystrophy is milder ?

Answer 16

PROMM

Question 17

what is FSHD ?

Answer 17

facioscapulohumeral dystrophy
facial
scapular winging, elevation of the scapula is characteristic , deltoid is spared
humeral affection

Question 18

what are the types of inflammatory myopathies ?

Answer 18

dermatomyositis
polymyositis
inclusion body myositis

Question 19

what is dermatomyositis associated with in adults ?

Answer 19

malignancies

Question 20

what is the presentation for dermatomyositis ?

Answer 20

Helitrope rash

Guttrons papules

Question 21

what is the pathogenesis in dermatomyositis ?

Answer 21

b cell mediated antibody production against capillary membranes leading to vasculitis

Question 22

what is the presentation of polymyositis ?

Answer 22

proximal weakness
elevated CK
no rashes
the diagnosis is made by exclusion

Question 23

what is the pathogenesis in polymyositis ?

Answer 23

CD8 t cell mediated attack on muscle cells

Question 24

what is the presentation like in inclusion body myositis ?

Answer 24

proximal and distal weakness

Question 25

what is the response to immunosuppressive in inclusion body myositis ?

Answer 25

non responsive to immunosuppressives

Question 26

what treatment is available for Duchenne muscular dystrophy ?

Answer 26

deflazcort
exon skipping therapy

Question 27

what is the most common cause of death in Becker ?

Answer 27

cardiomyopathy