musculoskeletal

Question 1

what disorder

“inflammatory disorder or skin & skeletal muscle”

Answer 1

dermatomyositis

Question 2

what underlying condition do you have to worry about in a person presenting with dermatomyositis

Answer 2

gastic cancer

Question 3

what 3 skin things do you see with dermatomyositis

Answer 3

1. rash on upper eye lids (heliotrope rash)
2. malar rash
3. red papules on elbows, knuckles and knees

Question 4

what disease do you see gottron papules? what are they

Answer 4

dermatomyositis

red papules on elbows, knuckles and knees

Question 5

what lab value is increased in dermatomyositis

Answer 5

creatine kinase

Question 6

what 2 antibodies are seen in dermatomyositis

Answer 6

anti Jo1

positive ANA

Question 7

what disease

“PERMYSIAL inflammation (CD4+ T cells) with perifascicular atrophy

Answer 7

dermatomyositis

Question 8

what disease

“ENDOMYSIAL inflammation (CD8+ T cells) with necrotic muscle fibers”

Answer 8

polymyositis

Question 9

where does muscle weakness begin in muscular dystrophy

Answer 9

proximal muscles

Question 10

what is calf enlargement in children with muscular dystrophy called”pseudohypertrophy”

Answer 10

bc they are hypertrophied with fat not muscle

Question 11

what is the difference between X linked muscular dystrophy and Becker muscular dystrophy

Answer 11

X linked-deletion of dystrophin gene

beckers-mutation

Question 12

what is the main pharmacologic way to tell the diff between myasthenia gravis and lambert eaton

Answer 12

with myasthnia gravis you can improve symptoms with anticholinesterase agents

Question 13

removing what organ in mysanthnia gravis disease will improve symptoms

Answer 13

Thymus

Question 14

what are the antibodies against in lambert eaton syndrome

Answer 14

presynaptic calcium channels at NMJ

Question 15

mysanthia gravis vs lambert eaton syndrome

which disease gets worse with use of the muscles

Answer 15

mysanthia gravis

lambert eaton gets better with use

Question 16

What cells are involved in inclusion body myositis?

Answer 16

endomysial CD8+ T cells

Question 17

What is present in the distinct cytoplasmic inclusions seen in inclusion body myositis?

Answer 17

B amyloid protein

parkin

Question 18

What causes DM1 , what causes DM2?

Answer 18

DM1 - expansion of CTG in serine threonine kinase

DM2 - expansion of CCTG - zinc finger dna Binding protein

Question 19

What pathology is seen in myotonic dystrophy?

Answer 19

varies but:

• type I atrophy, hypertrophy of type II
• internally situated nuclei
• little necrosis and regeneration

Question 20

What are the typical symptoms of myotonic dystrophy

Answer 20

progressive muscle weakness of distal limbs

• facial and neck weakness - ptosis
• cataracts, testicular atrophy - infertility, diabetes

Question 21

What groups of people usually get ocular pharyngeal muscular dystrophy?

Answer 21

hispanics of new mexico
french canadians in quebec
bukara jews in israeal

Question 22

In what disease is scapular winging prominent?

Answer 22

Facioscapulohumeral muscular dystrophy

Question 23

What are the usual symptoms of congenital myopathies?

Answer 23

hypotonia, decreased DTRs, dec muscle bulk

Question 24

What causes central core disease?

Answer 24

mutations in the ryanodine receptor

Question 25

What are some mutations present in red myopathy?

Answer 25

1. nebulin - involved in actin polymerization 2. skeletal muscle alpha actin 3. alpha and B tropomyosin 4. slow troponin T

Question 26

What is the mutation in central nuclear myopathy?

Answer 26

dynamin 2 - involved in endocytosis, membrane trafficking, centrosome assembly

Question 27

What is mutated in myotubular myopathy?

Answer 27

myotubularin - phosphatase in most tissues

Question 28

What are three examples of type II glycogenosis? Which is most severe? what is defective?

Answer 28

1. acid maltase deficiency 2. a 1,4 glucosidase deficiency 3. pompe disease pompe is most severe maltase is defective

Question 29

What are the diseases that cause type III glycogenosis? what is the main organ affected?

Answer 29

1. debranching enzyme deficiency 2. cori disease 3. limit dextrinosis 4. amylo 1,6 glucosidase deficiency - liver dysfunction

Question 30

What two diseases cause Type V glycogenosis? What is the main symptom?

Answer 30

1. mcardle disease 2. myophosphorylase deficiency -muscles cramp with exercise

Question 31

What causes type VII glycogenosis? main symptom?

Answer 31

1. PFK deficiency 2. tarui disease -muscles cramp with exercise

Question 32

What is pathognomonic for mitochondrial diseases of skeletal muscle?

Answer 32

ragged red fibers | -inc SDH, deficient cytochrome oxidase

Question 33

What inflammatory cells are present in rhabdomyolysis?

Answer 33

NONE - except macros cleaning up the debris

Question 34

What is pathognomonic for denervation diseases?

Answer 34

Type grouping - occurs after renervation