LD and MG

Question 1

what is leukodystrophy?

Answer 1

a group of geentic diseases affecting the CNS
that alters the mechanisms that form and preserve the layer
- all LD are degenerative

Question 2

what is hypo-, de-, and dysmyelination?

Answer 2

hypo: myelin not made in suffcient amounts
de: loss of myelin sheath insulating the nerves due to an underlying metabolic condition
dys: myelin is formed incorrectly but does not produce lesions

Question 3

what are some symptoms of LD?

Answer 3

balance disorders
tremors
motor functions impaired
intellectual function disorders
snesory fn disorders

Question 4

what are the 2 types of transmission?

Answer 4

1. Gender- X linked
   more prevalent in males
2. Autosomal Recessive
   - both parents carry the gene

Question 5

3 ways of treatment

Answer 5

1. alter gene/gene product
2. arrest disease progression
3. restore what is damaged

Question 6

what is myasthenia gravis

Answer 6

an autoimmune neuromuscular disease leading to fluctuating muscle weakness and fatigibillity

Question 7

what are symptoms of myasthenia gravis

Answer 7

muscle weakness
double vision
weak eyelids
hard to speak or smile
hard to chew

Question 8

what do the autoantibodies do?

how do they affect neuromuscular transmission?

Answer 8

they are directed against ACHR
anti-ACHR antibodies have high affinity for IgGs and their synthesis needs activated CD4 T cells to interact with B cells
- once they are produced, the anti-ACHR antibodies affect neuromuscular transmission by…
1. complement binding
2. increases AChR endocytosis
3. blocks AChR