Neuromuscular Muscle Disorders

Question 1

Inheritance pattern in Duchenne and Becker

Answer 1

X-linked

Question 2

Type of cardiomyopathy in duchenne

Answer 2

dilated

Question 3

anti-sense oligonucleotide FDA approved for DMD

Answer 3

eteplirsen (promotes skipping of exon 51)

Question 4

Inheritance pattern in Facioscapulohumeral Muscular dystrophy and over expressed protein

Answer 4

autosomal DOMINANT

DUX4

Question 5

FSHD type 1 gene/chrom

Answer 5

D4Z4 chromosome 4

Question 6

FSHD type 2 gene

Answer 6

SMCHD1

Question 7

Clinical presenation of FSHD (type 1 and 2)

Answer 7

bifacial weakness, scapular winging, proximal weakness UE/LE

Question 8

FSHD + hearing loss +retinopathy

Answer 8

Coats disease

Question 9

Myotonic dystrophy type 1 presentation

Answer 9

distal muscle weakness, myotonia, early cataracts

Question 10

MD type 1 repeat and gene

Answer 10

CTG - DMPK

Question 11

MD type 2 repeat and gene

Answer 11

CCTG on CNBP(ZNF9

Question 12

MD type 2 presentation

Answer 12

proximal muscle weakness + cataracts and myotonia

Question 13

one treatment for MD to help with muscle relaxatino

Answer 13

mexiletine

Question 14

LGMD 1 inheritance

Answer 14

autosomal dominant

Question 15

LGMD 2 inheritance

Answer 15

autosomal recessive

Question 16

Congenital myopathy associated with malignant hyperthermia and RYR1 mutaiton

Answer 16

Central core myopathy

Question 17

perifascicular atrophy on muscle biopsy

Answer 17

dermatomyositis

Question 18

which inflammatory myopathy should you do tumor surveillance in ?

Answer 18

dermatomyositis

Question 19

Inclusion body myositis presentation

Answer 19

age over 50, deep finger flexor and quad weakness, normal CK and rimmed inclusions

Question 20

exercise intolerance in a child with cramping, high ck and second wind phenomenon

Answer 20

McArdles phosphorylase deficiency

Question 21

fixed non-exertional weakness in a child and subsarcolemmal vacuoles

Answer 21

Pompe - Acid maltase deficiency

Question 22

fixed proximal weakness with organomegaly in a child

Answer 22

Lipidoses - most commonly carnitine palmitoyltransferase 2 deficiency

Question 23

Two types of periodic paralyses and age of onset

Answer 23

Hyperkalemic age <10

Hypokalemic Age >10

Question 24

Difference in paralytic attacs in hypo v hyperkalemic PP

Answer 24

hypokalemic attacks can last days whereas hyperkalemic sis ~30minutes

Question 25

child with periodic paralysis and cardiac arrhythmias - dx and gene

Answer 25

anderson tawil syndrome

KCNj2

Question 26

Gene for hyperkalemic PP

Answer 26

SCN4A

Question 27

Gene for hypokalemic PP

Answer 27

CACNA1

Question 28

Two types of hyperexcitability disorders (stiffness)

Answer 28

Stiff person ( anti-GAD
Neuromyotonic (Isaac syndrome