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pathoma unit 3 > musculoskeletal > Flashcards

musculoskeletal Flashcards

1
Q

what disorder

“inflammatory disorder or skin & skeletal muscle”

A

dermatomyositis

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2
Q

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

A

gastic cancer

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3
Q

what 3 skin things do you see with dermatomyositis

A
  1. rash on upper eye lids (heliotrope rash)
  2. malar rash
  3. red papules on elbows, knuckles and knees
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4
Q

what disease do you see gottron papules? what are they

A

dermatomyositis

red papules on elbows, knuckles and knees

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5
Q

what lab value is increased in dermatomyositis

A

creatine kinase

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6
Q

what 2 antibodies are seen in dermatomyositis

A

anti Jo1

positive ANA

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7
Q

what disease

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

A

dermatomyositis

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8
Q

what disease

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

A

polymyositis

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9
Q

where does muscle weakness begin in muscular dystrophy

A

proximal muscles

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10
Q

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

A

bc they are hypertrophied with fat not muscle

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11
Q

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

A

X linked-deletion of dystrophin gene

beckers-mutation

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12
Q

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

A

with myasthnia gravis you can improve symptoms with anticholinesterase agents

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13
Q

removing what organ in mysanthnia gravis disease will improve symptoms

A

Thymus

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14
Q

what are the antibodies against in lambert eaton syndrome

A

presynaptic calcium channels at NMJ

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15
Q

mysanthia gravis vs lambert eaton syndrome

which disease gets worse with use of the muscles

A

mysanthia gravis

lambert eaton gets better with use

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16
Q

What cells are involved in inclusion body myositis?

A

endomysial CD8+ T cells

17
Q

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

A

B amyloid protein

parkin

18
Q

What causes DM1 , what causes DM2?

A

DM1 - expansion of CTG in serine threonine kinase

DM2 - expansion of CCTG - zinc finger dna Binding protein

19
Q

What pathology is seen in myotonic dystrophy?

A

varies but:

  • type I atrophy, hypertrophy of type II
  • internally situated nuclei
  • little necrosis and regeneration
20
Q

What are the typical symptoms of myotonic dystrophy

A

progressive muscle weakness of distal limbs

  • facial and neck weakness - ptosis
  • cataracts, testicular atrophy - infertility, diabetes
21
Q

What groups of people usually get ocular pharyngeal muscular dystrophy?

A

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

22
Q

In what disease is scapular winging prominent?

A

Facioscapulohumeral muscular dystrophy

23
Q

What are the usual symptoms of congenital myopathies?

A

hypotonia, decreased DTRs, dec muscle bulk

24
Q

What causes central core disease?

A

mutations in the ryanodine receptor

25
Q

What are some mutations present in red myopathy?

A
  1. nebulin - involved in actin polymerization
  2. skeletal muscle alpha actin
  3. alpha and B tropomyosin
  4. slow troponin T
26
Q

What is the mutation in central nuclear myopathy?

A

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

27
Q

What is mutated in myotubular myopathy?

A

myotubularin - phosphatase in most tissues

28
Q

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

A
  1. acid maltase deficiency
  2. a 1,4 glucosidase deficiency
  3. pompe disease

pompe is most severe
maltase is defective

29
Q

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

A
  1. debranching enzyme deficiency
  2. cori disease
  3. limit dextrinosis
  4. amylo 1,6 glucosidase deficiency
  • liver dysfunction
30
Q

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

A
  1. mcardle disease
  2. myophosphorylase deficiency

-muscles cramp with exercise

31
Q

What causes type VII glycogenosis? main symptom?

A
  1. PFK deficiency
  2. tarui disease

-muscles cramp with exercise

32
Q

What is pathognomonic for mitochondrial diseases of skeletal muscle?

A

ragged red fibers

-inc SDH, deficient cytochrome oxidase

33
Q

What inflammatory cells are present in rhabdomyolysis?

A

NONE - except macros cleaning up the debris

34
Q

What is pathognomonic for denervation diseases?

A

Type grouping - occurs after renervation

pathoma unit 3 (9 decks)

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