Neuromuscular disease

Question 0

Lambert Eaton myasthenic syndrome

Answer 0

Autoantibodies to presynaptic Ca2+ channels -> low Ach release
causes proximal muscle weakness, associated with small cell lung cancer

Question 1

Charcot marie tooth

Answer 1

aka Hereditary motor and sensory neuropathy (HMSN).
Group of disorders with defective protein of myelin sheath and or peripheral nerves.
Type I = autosomal DOM demyelinating synndrome
+Scoliosis, foot arch deformities, weak DTRs,

“inverted champagne bottle” leg atrophy

Question 2

myyasthenia gravis

Answer 2

most common NMJ disorder
autoantibodies to postsynaptic ACh R
Presents with ptosis, weakness, worse with use.

Question 3

Congenital muscular dystrophy

Answer 3

floppy baby, low DTRs,

50% have Lamin alpha2 deficiency ->cant act with dystrophin

Question 4

Dystrophin

Answer 4

A shock absorber for the cell membrane. Defect causes duchennes MD -> calf HYPERtrophy, proximal weakness, death by 20yo.