Muscle Myopathies

Front 1

Common Features: Is the weakness proximal or distal?

Back 1

Proximal > distal

Front 2

What kind of drug can cause a muscular myopathy?

Back 2

Statins

Front 3

What is a very high serum CK indicative of?

Back 3

A rapidly progressive myopathy

Front 4

What is a high serum CK indicative of?

Back 4

A progressive myopathy

Front 5

What is a normal serum CK indicative of?

Back 5

Either a chronic myopathy or a normal patient

Front 6

What is a decreased amplitude/frequency on EMG indicative of?

Back 6

A muscular myopathy because the muscle fibers are unable to produce an AP

Front 7

What is the Gold standard for dx of a muscular myopathy?

Back 7

Muscle biopsy

Front 8

What is an ischemic exercise test useful for?

Back 8

If a metabolic myopathy is suspected

Front 9

What is a genetic test useful for?

Back 9

If an inherited myopathy is suspected

Front 10

Duchenne's: Inheritance pattern

Back 10

X-linked

Front 11

Duchenne's: Gene affected

Back 11

Deletion in the dystrophin gene that results in a loss of the reading frame

Front 12

Duchenne's: Onset

Back 12

Early childhoof

Front 13

Duchenne's: What happens to the calves?

Back 13

Calf hypertrophy

Replacement of the muscle with adipose tissue

Front 14

In what disease would you see this type of staining pattern?

Back 14

Duchenne's Muscular Dystrophy

Front 15

Duchenne's: Prognosis if not treated

Back 15

Wheelchair bound by 13

Ventilator by 18-20

Front 16

Duchenne's: Treatment

Back 16

Prednisone

Front 17

Duchenne's: Most common COD

Back 17

Cardiomyopathy

Front 18

Becker's: Mutation

Back 18

Dystrophin, as in Duchenne's

Front 19

Becker's: Why is it milder compared to Duchenne's?

Back 19

Although the mutation is larger in Becker's, the reading frame is unchanged

Front 20

Becker's: Onset

Back 20

Late and slowly progressive

Front 21

Becker's: Why is it usually detected?

Back 21

Cardiomyopathy

Front 22

Limb-Girdle Muscular Dystrophy: What is it?

Back 22

An inherited sarcolemmopathy

A group of diseases

Catch-all dx because we do not know much about it

Front 23

Limb-Girdle Muscular Dystrophy: What proteins are mutated?

Back 23

Membrane proteins other than dystrophin

Sarcoglycan, dysferlin, emerin, caveolin

Front 24

Limb-Girdle Muscular Dystrophy: Weakness pattern? What is the exception?

Back 24

Proximal symmetric weakness

Exception: Miyoshi myopathy - distal weakness

Front 25

Limb-Girdle Muscular Dystrophy: Emery-Dreifus MD?

Back 25

MD + severe contractures

Front 26

Facioscapulohumeral musuclar dystrophy: Inheritance pattern

Back 26

AD

Front 27

Facioscapulohumeral musuclar dystrophy: Mutation

Back 27

Deletion in chromosome 4

Front 28

Facioscapulohumeral musuclar dystrophy: What bones are affected?

Back 28

Facial bones

Scapula

Humerus

Front 29

Facioscapulohumeral musuclar dystrophy: Rapidly or slowly progressive?

Back 29

Slowly progressive

Front 30

What condition is this?

Back 30

Facioscapulohumeral musuclar dystrophy

Front 31

Facioscapulohumeral musuclar dystrophy: When does it present?

Back 31

2nd decade of life

Front 32

Facioscapulohumeral musuclar dystrophy: Most common symptom

Back 32

Shoulder weakness

Front 33

Facioscapulohumeral musuclar dystrophy: Popeye's arm

Back 33

Loss of muscle mass in biceps and triceps and the forearm remains

Front 34

Myotonic Muscular Dystrophy: Inheritance pattern

Back 34

AD

Front 35

Myotonic Muscular Dystrophy: Mutation (both types)

Back 35

Triple repeat

Type I - Triple CTG on chromosome 19

Type II - Triple CCTG on chromosome 3

Front 36

Myotonic Muscular Dystrophy: Difference between Type I and Type II

Back 36

Type I worsens from generation to generation

Type II has no child form

Front 37

Myotonic Muscular Dystrophy: Weakness pattern

Back 37

Distal weakness

Hands and legs before face and neck

Front 38

Myotonic Muscular Dystrophy: When does mental retardation become a symptom?

Back 38

When childhood onset

Front 39

Dx?

Back 39

Myotonic Muscular Dystrophy

Front 40

Cholesterol Lower Agents Myopathy: Cause

Back 40

Statins

Risk increase with 2 statins, statin + antilipemic, statin + some Abx

Front 41

Cholesterol Lower Agents Myopathy: 2 types

Back 41

1. Subacute to chronic - mild proximal weakness, reversible

2. Acute/subacute - high serum CK, acute renal failure, myalgia, muscle tenderness, muscle weakness, myoglobinuria

Front 42

Dermatomyotitis Myopathy: Inflammation pattern? What cell type is predominant?

Back 42

Perimysial inflammation

B cell predominant

Front 43

Dx?

Back 43

Dermatomyotitis Myopathy

Front 44

Dermatomyotitis Myopathy: Weakness pattern?

Back 44

Bilateral, proximal muscle weakness

Front 45

Heliotrope rash

Back 45

Rash on the eyelid

Front 46

What kind of rash is this?

Back 46

V-shawl rash

Front 47

What kind of rash is this?

Back 47

Grotton's papules

Front 48

Dermatomyotitis Myopathy: What other condition is it associated with?

Back 48

Malignancy

Front 49

Dermatomyotitis Myopathy: What happens to the CK?

Back 49

Elevated CK

Front 50

Polymyositis Myopathy: Inflammation pattern? What cells are involved?

Back 50

Endomysial inflammation

CD8 T-cell predominant

Front 51

Dx?

Back 51

Polymyositis Myopathy

Front 52

Polymyositis Myopathy: Symptoms

Back 52

Proximal weakness

Weakness of neck flexion

No skin rash

Front 53

Inclusion Body Myositis: Pathology

Back 53

Polymyositis features + inclusion bodies

Front 54

Inclusion Body Myositis: Weakness pattern

Back 54

Distal (quadriceps, long finger and wrist flexors)

Slowly progressive

Asymmetric weakness

Front 55

Inclusion Body Myositis: Tx?

Back 55

There is no tx

Front 56

Exercise intolerant diseases?

Back 56

Phosphorylase (glycogen)

Phosphofructokinase (glycogen)

CPT (lipid)

Front 57

Static myopathy

Back 57

Exercise tolerant

Progressive weakness

Front 58

Dynamic myopathy

Back 58

Exercise intolerant