Chapter 10: NM II

Question 1

Acute onset of dysautonomia in a smoker with lung mass

Answer 1

ab against ganglionic nicotinic acetylcholine receptor

Question 2

DMD protein and inheritance

Answer 2

dystrophin

x-linked recessive

Question 3

throat, tongue, and ear pain with syncope

Answer 3

glossopharyngeal neuralgia

Question 4

Emery-Dreifuss (gene,inheritance)

Answer 4

LMNA, autosomal dominant or x-linked, Emerin,

Question 5

Central core myopathy ( pathologic findings, clinical assocation)

Answer 5

NADH stain reveals absence of mitochonfia associated with malignant hyperthermia

Question 6

Tarui disease (enzyme)

Answer 6

phosphofructokinase def.

Question 7

Hirschsprung’s disease (gene, absence of ____)

Answer 7

RET oncogene, myenteric plexus

Question 8

Cori’s disease

Answer 8

debranching enzyme def

Question 9

% with Musk antibodies and predominant symptoms

Answer 9

50% , more bulbar and neck flexors

Question 10

Mcardles (type V) disease enzyme

Answer 10

myophosphorylase deficiency

Question 11

Dermatomyositis (pathologic findings)

Answer 11

perifascicular atrophy

Question 12

Myotonic dystrophy DM1 (gene

Answer 12

CTG repeat , DMPK gene

Question 13

Antibody in LES

Answer 13

presynaptic P/Q-type voltage gated Calcium channel

Question 14

Pompe’s disease (enzyme) (glycogenosis II )

Answer 14

acid maltase def

Question 15

Oculopharyngeal dystrophy (gene)

Answer 15

GCG repeat, PABP2 gene

Question 16

Myotonic dystrophy DM2 (gene)

Answer 16

CCTG repeat, zinc finger protein gene

Question 17

Inclusion Body myositis (pathologic finding)

Answer 17

rimmed vacuoles

Question 18

Critical illness myopathy (pathologic finding)

Answer 18

Myosin loss

Question 19

Andersen’s disease (enzyme)

Answer 19

branching enzyme deficiency

Question 20

Myotonia congenita gene/chrom

Answer 20

CLCN1 Chrom 7q

Question 21

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

Answer 21

Pompe’s

Question 22

Exercise induces weakness and cramping with second wine phenomenon

Answer 22

Mcardles

Question 23

liver disease and myopathic weakness

Answer 23

Coris

Question 24

liver failure in a kid

Answer 24

anderson’s type IV