NM II - Adult and Pediatric muscle, autonomic nervous system, and NMJ disorders

Question 1

acute onset of dysautonomia in a smoker with a lung mass

Answer 1

paraneoplastic autonomic ganglionopathy, antibody against ganglionic nicotinic acetylcholine receptor

Question 2

horner’s syndrome with intact facial sweating

Answer 2

lesion distal to carotid bifurcation

Question 3

duchenne muscular dystrophy (protein inheritance)

Answer 3

absent dystrophin
X-linked recessive

Question 4

throat, tongue, ear pain a/w syncope

Answer 4

glossopharyngeal neuralgia

Question 5

tiltt table test showing increase in heartt rate of at least 30 bpm from baseline, or to more than 120 bpm within 10 minutes of head up tilt, without significant changes in blood pressure, but with symptoms of orthostasis

Answer 5

postural orthosttatic tachycardia syndrome, the most common form of dysautonomia

Question 6

emery-dreifuss (gene, inheritance)

Answer 6

LMNA, autosomal dominant
Emerin, X-linked

Question 7

central core myopathy (gene, pathologic finding, clinical assocation)

Answer 7

-RYR1
-central pale cores in NADH stains from absence of mitochondria
-a/w malignant hyperthermia

Question 8

tarui disease (enzyme)

Answer 8

phosphofructtokinase deficiency

Question 9

cause of hirschsprung’s disease

Answer 9

maldevelopment with focal absence of the myenteric plexus, sometimes due to RET proto-oncogene mutation

Question 10

becker’s muscular dystrophy (protein, inheritance)

Answer 10

abnormal or reduced dystrophin
X-linked recessive

Question 11

cori’s disease (enzyme)

Answer 11

debranching enzyme deficiency

Question 12

syncope with hypotension and bradycardia after putting on a tight neck tie

Answer 12

carotid sinus hypersensitivity

Question 13

anti-muscle specific tyrosine kinase antibodies (anti-MUSK)

Answer 13

50% of seronegative myasthenics, predominantly involving swallowing, neck flexors

Question 14

McArdle’s disese (enzyme)

Answer 14

myophosphorylase deficiency

Question 15

dermatomyositis - pathologic findings

Answer 15

perifascicular atrophy

Question 16

myotonic dystrophy DM1 - gene affected

Answer 16

CTG repeat, DMPK gene

Question 17

presynaptic P/Q type voltage gated calcium channel antibodies

Answer 17

lambert-eaton myasthenic syndrome

Question 18

pompe’s disease - enzyme

Answer 18

acid maltase deficiency

Question 19

oculopharyngeal dystrophy - gene affected

Answer 19

GCG repeat, PABP2 gene

Question 20

myotonic dystrophy DM2 - gene affected

Answer 20

CCTG repeat, zinc finger protein gene

Question 21

inclusion body myositis - pathologic findings

Answer 21

rimmed vacuoles

Question 22

critical illness myopathy - patholgic finding

Answer 22

myosin loss

Question 23

andersen’s disease - enzyme

Answer 23

branching enzyme deficiency