Peds Neuromuscular

Question 1

DMD gene

Answer 1

Xp21

Question 2

DMD inheritance

Answer 2

x linked recessive

Question 3

DMD predicting loss of ambulation

Answer 3

30 meter declined from average performances on the 6MWT is predictive of a significant decline in the subsequent year and
Decline of greater than or equal to 10% on the 10-meter run/walk over the course of a year is predictive of loss of ambulation over the subsequent 4 years

Question 4

Benefits of glucocorticoids

Answer 4

Prolong ambulation, preserved upper limb function, preserved respiratory function, and decreased need for scoliosis surgery.

Question 5

Deflazacort dose

Answer 5

0.9mg/kg/day, max 36mg/day

Question 6

Prednisone dose

Answer 6

0.75mg/kg/day, max 30mg/day

Question 7

new treatment for DMD

Answer 7

exon skipping (Exondys 51, Amondys45, Vilodirsen53, Golodirsen53)

Question 8

LGMD 1 inheritance

Answer 8

AD

Question 9

LGMD 2 inheritance

Answer 9

AR

Question 10

FSHD inheritance and gene

Answer 10

AD, 4q35

Question 11

Extramuscular features of FSHD

Answer 11

retinal vasculopathy and sensorineural hearing gloss, should therefore be referred to audio and ophthalmology eval.

Question 12

Myotonic dystrophy inheritance

Answer 12

Myotonic dystrophy type 1 and 2 are AD. Mostly from maternal inheritance.

Question 13

Myotonic dystrophy mutation

Answer 13

CTG repeat in the DMPK gene

Question 14

Treatment for symptomatic myotonia

Answer 14

mexiletine, carbamazepine or phenytoin. Mexiletine contraindicated in patients with cardiac involvement.

Question 15

Myotonic dystrophy type 2

Answer 15

usually involves proximal muscles and can have the same system involvement as type 1 but milder.
CCTG repeat in the CNBP gene
Also known as proximal myotonic myopathy.
Presents with pain

Question 16

CMT1 inheritance

Answer 16

AD, demyelinating

Question 17

CMT2 inheritance

Answer 17

AD and AR, axonal

Question 18

CMT mutation

Answer 18

duplication PMP22

Question 19

HNPP mutation

Answer 19

deletion PMP22

Question 20

SMA gene mutation

Answer 20

AR, 5q11

Question 21

Nusinersen mechanism

Answer 21

modifies the pre-mRNA splicing process of the SMN2 gene, leading to the inclusion of exon 7, allowing expression of full SMN protein

Question 22

Vincristine neuropathy

Answer 22

sensorimotor axonal neuropathy

Question 23

Cisplatinum neuropathy

Answer 23

Sensory axonal neuropathy

Question 24

Myasthenia gravis antibodies

Answer 24

nicotinic acethylcholine receptors, MuSK and LRP4.

Question 25

McArdle’s

Answer 25

glycogen storage disease. cramps, myalgia, rhabdo, second wind phenomenon. Myophosphorilase deficiency.

Question 26

Pompe disease

Answer 26

Acid maltase deficiency

Question 27

Emerys dreifus gene

Answer 27

xq28, x linked

Question 28

Emery dreifus type 2 gene

Answer 28

1q21.2

laminin A/C

Question 29

classic congenital muscular dystrophy

Answer 29

merosin and laminin a2 mutation.

Question 30

Myotonia congenita

Answer 30

Chloride channels
Thomsen’s disease
Little hercues
mild myotonia

Question 31

Paramyotonia congenita

Answer 31

Sodium channels, AD