Myopathies

Question 1

Studies for muscle

Answer 1

Electrophysiology

EMG NCV

Question 2

NCV studies use

Answer 2

Probes

Question 3

EMG use

Answer 3

needles

Question 4

Most common entrapment syndrome

Answer 4

Carpal Tunnel syndrome

Question 5

URTI
B LE weakness
Rubbery legs
Ascending paralysis
Ptosis
Difficulty in ambulation
DOB

Answer 5

Guillain Barraine Syndrome

Question 6

Abnormal Spontaneous Activity

Fibrillation Potential

Answer 6

Myopathy

Question 7

Abnormal Spontaneous Activity

Complex Repetitive Discharge

Answer 7

Myopathy

Question 8

Myopathy presents with

Answer 8

1 Complex repetitive discharge

2 Fibrillations

Question 9

Pathognomonic of myotonic dystrophy

Answer 9

Dive bomber sound

Question 10

Trinucleotide repeat in myotonic dystrophy

Answer 10

CTG

Question 11

Muscle fiber necrosis undergoing regeneration

Subsequent loss of muscle fibers

Answer 11

Muscular dystrophy

Question 12

Most common primary myopathy

Answer 12

Muscular dystrophy

Question 13

< 5 years old

Progressive weakness of girdle muscle

Pseudohypertrophy of Calf

Respiratory failure in 20s-30s

Answer 13

Duchenne Muscular Dystrophy

Question 14

Gene deletion for DMD

60-70% of cases

Answer 14

Dystrophin

Question 15

On PE, patients with DMD may elicit this sign

Answer 15

Gower’s sign

Question 16

Use of UE to push up from the floor to standing

Pausing at thighs

Answer 16

Gower sign

Question 17

Early stage of DMD

Answer 17

Pseudohypertrophy of calves

Gradual loss of muscle

Question 18

10-12 years of DMD

Answer 18

Confined to wheelchair

Question 19

2nd decade of life DMD

Answer 19

Death due to respiratory insufficiency

Question 20

Mild form of DMD

Answer 20

Becker’s muscular dystrophy

Question 21

Sex linked recessive Xp21

Partial deletion of the gene coding for dystrophin

Dystrophin is partially present
Muscle membrabe is semi functional

Answer 21

Becker’s Muscular Dystrophy

Question 22

Genetically heterogenous group
90% AR
Less frequent than dystrophinopathies

Begins during adolescence or adulthood
Milder, slower progression
Trunk and proximal limb involvement

Variation in fiber size
Small angular fibers; occasionally hypertrophic

Answer 22

Limb Girdle Muscular Dystrophy

Question 23

Proximal muscle weakness
Gower’s sign
Scapular winging

Answer 23

Limb Girdle Muscular Dystrophy

Question 24

Multisystem disease of muscle, heart, eye, endocrine system and CNS

Weakness
Myotonia (sustained muscle contraction)
Cataract
Cardiac arrhythmia
Frontal balding

Answer 24

Myotonia Dystrophica

Steinert’s disease

Question 25

CTG trinucleotide repeats in gene: DMPK

Autosominal dominance inheritance

Answer 25

Myotonia dystrophica

Question 26

Myotonic dystrophy cataract

Answer 26

Christmas Tree Cataract

Question 27

Mouth of patients with muscular dystrophy

Answer 27

Carp mouth

Question 28

Myotonia
Muscle stiffness
Muscle hypertrophy “herculean appearance”

Gene mutation encoding chloride channel

Autosomal dominant inheritance

Answer 28

Myotonia Congenita

Question 29

Rare neurologic disorder with features of autoimmune disease

Fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, emotional distress which can set off muscle spasms

Answer 29

Stiff-person Syndrome