Chapter 10: NM II Flashcards Preview

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Flashcards in Chapter 10: NM II Deck (24):
1

Acute onset of dysautonomia in a smoker with lung mass

ab against ganglionic nicotinic acetylcholine receptor

2

DMD protein and inheritance

dystrophin
x-linked recessive

3

throat, tongue, and ear pain with syncope

glossopharyngeal neuralgia

4

Emery-Dreifuss (gene,inheritance)

LMNA, autosomal dominant or x-linked, Emerin,

5

Central core myopathy ( pathologic findings, clinical assocation)

NADH stain reveals absence of mitochonfia associated with malignant hyperthermia

6

Tarui disease (enzyme)

phosphofructokinase def.

7

Hirschsprung's disease (gene, absence of ____)

RET oncogene, myenteric plexus

8

Cori's disease

debranching enzyme def

9

% with Musk antibodies and predominant symptoms

50% , more bulbar and neck flexors

10

Mcardles (type V) disease enzyme

myophosphorylase deficiency

11

Dermatomyositis (pathologic findings)

perifascicular atrophy

12

Myotonic dystrophy DM1 (gene

CTG repeat , DMPK gene

13

Antibody in LES

presynaptic P/Q-type voltage gated Calcium channel

14

Pompe's disease (enzyme) (glycogenosis II )

acid maltase def

15

Oculopharyngeal dystrophy (gene)

GCG repeat, PABP2 gene

16

Myotonic dystrophy DM2 (gene)

CCTG repeat, zinc finger protein gene

17

Inclusion Body myositis (pathologic finding)

rimmed vacuoles

18

Critical illness myopathy (pathologic finding)

Myosin loss

19

Andersen's disease (enzyme)

branching enzyme deficiency

20

Myotonia congenita gene/chrom

CLCN1 Chrom 7q

21

Big calves, tongue, heart, liver, hypotonia (infants),

Pompe's

22

Exercise induces weakness and cramping with second wine phenomenon

Mcardles

23

liver disease and myopathic weakness

Coris

24

liver failure in a kid

anderson's type IV