NMJ disorders: Id.

Pathophysiology

Differentiation:  Directly alters functioning receptor by

blocking Ach binding and receptor
MYASTHENIA GRAVIS (MG) activation
Post – synaptic
 Promote endocytosis of Ach receptor
Decrease in ACH receptors
ACH receptors affected resulting to degradation of Ach receptor
F>M  Destroys postsynaptic surface leading to ↓
Initial strength then decrease ACh receptors
Thymus problem (thymoma)
Ie. Manifestations
LAMBERT EATON MYASTHENIC SYNDROME
(LEMS)  Common feature is progressive weakness
Pre – synaptic throughout day
Decrease in ACH  Can be described as fluctuating and
Calcium channels affected fatigable oculofaciobulbar palsy
M>F
 First affectations include Levator palpebrae
Initial weakness then increase in strength
Small cell lung carcinoma (oat cell) superioris and EOMs
 Snarling face (Myasthenic Snarl)
 Problems with mastication
I. Myasthenia Gravis  Hypernasal sounds
 Head drop
 Chronic autoimmune neuromuscular  General weakness
disorder; characterized by fluctuating  Atrophy is minimal ornone
weakness of voluntary mm groups  DTR is not affected
 “Grave muscular weakness”  Paresthesia of face, hands, and thighs
 AKA Erb-Goldflam syndrome  Trident tongue

Ia. Epidemiology If.

 43-84/million people
 ~1/300k per year
 F>M in 20-30 yo; M>F in 50-60 yo

Ib. Etiology

 Idiopathic
 Familial – inherit susceptibility to
autoimmune dse (HLA-B8/DR3)
 Thymoma
 Congenital

Ic. Thymus Gland

 Located behind sternum

 Controls immune function
 May give incorrect instruction to developing
immune cells