Disorders

Question 0

Dystrophin gene? defect causes?

Answer 0

XP21
membran tears–> Ca leak –> muscle necrosis
DMD, BMD, Limb girdle syndrome

Question 1

Elevated CK indicates??

Answer 1

Muscle disorder!

Question 2

Muscular dystrophies (6)

Answer 2

DMD, BMD
Limb girdle syndrome
fascioscapulohumeral dystrophy
Myotonic dystrophy
Occulopharyngeal dystrophy

Question 3

limb girdle syndrome genetics

Answer 3

recessive or dominant

Question 4

Fasciohumeral dystrophy genetics and onset

Answer 4

adult onset

dominant, 25% spontaneous mutation

Question 5

myotonic dystrophy genetics

Answer 5

DMPK chromo 19, CTG repeats, dominant

Question 6

Myotonic dystrophy types

Answer 6

Adult form- moderate; progressive weakness, histo nuclei in middle
Congenital- severe; maternal inheritence (immobile sperm), FTT, cognitive

Question 7

Occulopharyngeal dystrophy genetics, incidence, onset

Answer 7

Dominant GCG repeats, 40/50s, French Canadian

Question 8

Features of mitochondrial myopathies

Answer 8

ragged red fiber on biopsy
NS susceptible
opthalmoplegia, proximal weakness common

Question 9

Metabolic DO general features

Answer 9

usu dynamic (exercise intolerance) but can be static
glycogenosis, lipid metabolism, malignant hyperthermia

Question 10

Glycogenosis Type II-

• what is it
• types and symptoms
• treatment

Answer 10

Acid maltase DO
Infantile Pompeis- hypotonia, FTT
Adult- progressive weakness
Treatment- replace w acid maltase

Question 11

Glycogenosis type V

• what is it
• onset
• features

Answer 11

myophosphoyrlase deficiency
childhood onset
exerrcise intolerance (pain and myoglobinuia)

Question 12

Lipid metabolism DO-

• what is it
• genetics
• features

Answer 12

CPT deficiency
recessive
myoglobinuria w exercise, fasting, fever

Question 13

Malignant hyperthermia genetics, features

Answer 13

dominant

myoglobinuria, fever, tachycardia, rigidity

Question 14

Gottren’s sign

Answer 14

scaly knuckles seen in dermatomyositis

Question 15

Elevated ALT, AST

Answer 15

Dermatomyositis

Question 16

Elevated Jo-1

Answer 16

autoantibodies
polymyositis or dermatomyositis
interstitial lung disease (wont respond to treatment)

Question 17

Inflammatory autoimmune myopathies (2)

• treatment
• describe

Answer 17

Acquired
poly- adult; derma- any age, females usually
high dose prednisone

Question 18

Inclusion body myositis

• onset
• features
• labs
• treatment

Answer 18

acquired inflammatory autoimmune
50+ onset
weakness in quads, finger flexors; usu no pain
CK, EMG are normal!
no treatment

Question 19

Unique feature of viral myositis

Answer 19

VERY HIGH CK!!

HIV is usu painless

Question 20

Parasite myositis common?

Answer 20

trichinella

Question 21

Necrotizing myopathies

Answer 21

Cholesterol reducing agents (clofirate, statins, niacin) (myopathy--> myalgia--> myositis--> rhabdomyolysis 10xCK)
Ampiphilic drugs
Colchicine- renal failure
AZT (zidovudine)- 
L-trytophan, Penicillamine, procainamide
Prednisone

Question 22

Rhabdomyolysis

• causes
• features
• what is it

Answer 22

• crush injury, exercise, dehydration, meds, alcohol/drugs, infxn
• renal/heart failure, very high CK
• muscle beakdown product to bloodstream

Question 23

Hoffmann’s sign

Answer 23

tingling with pressure; tinel’s

Question 24

Romberg sign

Answer 24

heel to toe

Question 25

Cervical spondylotic myelopathy

Answer 25

degeneraton of intervertebral disc (calcified) often associated nerve deterioration (radiculopathy) surgery if conservative fails very common in old

Question 26

lumbar spinal stenosis - features - describe - treatment

Answer 26

- development (achondroplasia) or acquired (slipped disc) - claudication, radicular pain, low back pain - worse with extension, associated cervical stenosis!! - degen IV disc/facet joint/ligament flavum - surgery QOL; leg>lower back pain, epidural predicts results

Question 27

arteries to long bone

Answer 27

1. nutrient artery (medullary cavity and inner 2/3 haversian) 2. metaphyseal 3. epiphyseal 4. periosteal (outer 1/3 haversian)

Question 28

Pediatric vs adult bone vascular supply

Answer 28

pediatrics- epiphyseal supplies entire cortex

Question 29

AVN risk factors

Answer 29

steroids, sickle cell, smoking, alcoholism

Question 30

AVN presentation and assessment

Answer 30

pain and limited ROM | MRI for plan, xray sufficient for late stage

Question 31

Most important artery for osteonecrosis of femoral head

Answer 31

medial femoral circumflex a

Question 32

What is osteochondrosis? Types?

Answer 32

osteonecrosis in child Perthes- femoral head Freiberg- 2nd MT head

Question 33

Osteochondritis dissecans - describe - common places - presentation

Answer 33

blood deprivation of subchondral bone --> necrosis distal humerus or distal femur or talus aching pain, joint effusion, ROM loss