muscle diseases Flashcards
exam 1
1
Q
myopathy always results with an alteration of muscle structure
A
nope, usually but not always
2
Q
pompe tx.
A
enzyme replacement
3
Q
dystrophinopathy tx.
A
exon skipping
4
Q
SMA tx.
A
gene replacement
5
Q
rash and proximal weakness
A
dermatomyositis
6
Q
non-toxic acquired myopathy and weakness of quads
A
inclusion body myositis
7
Q
weakness in limb girdle and particular hip flexors
A
endocrine
8
Q
due to toxins (statins) auto immune or paraneoplastic
biopsy- myofiber necrosis
A
necrotizing myopathy
9
Q
x-linked and cardiomyopathy
A
Duchenne’s
10
Q
Weakness in face and AD type I and II
A
fascioscapulohumeral
11
Q
DMI trinucleotide repeat and leads to weakness in cranial
A
myotonic MD
12
Q
alpha-glucosidase deficiency
A
pompe
13
Q
myophosphorylase deficiency
A
mcArdle
14
Q
lipid metabolism
A
lipid storage disease
15
Q
maternally transmitted
A
mitochondrial
