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SKIN/MS FINAL > MUSCLE DISEASES > Flashcards

MUSCLE DISEASES Flashcards

1
Q

2 pathologic processes that affect skeletal muscle

A

denervation atrophy (abnormality of the nerve)

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2
Q

mutation causing spinal muscular atrophy

A

survival motor neuron 1 - gene on chromosome 5

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3
Q

what is SMN1 required for

A

motor neuron survival

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4
Q

most common form of spinal muscular atrophy

A

werdnig - hoffman disease

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5
Q

spinal muscular atrophy inheritance

A

autosomal recessive

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6
Q

heterogenous group of inherited disorders that result in muscle weakness and eventually muscle atrophy and wasting with muscle being replaced by fibrofatty tissue

A

muscular dystrophy

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7
Q

cause of duchene muscular dystrophy and becker muscualr dystrophy

A

X linked gene that codes for dystrophin is mutated.

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8
Q

what does dystrophin do

A

tranfers contractile force to the connective tissue from the EC matrix

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9
Q

patients with this have little or no dystrophin

A

duchenne muscular dystrophy

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10
Q

when does DMD develop

A

by age 5

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11
Q

signs of DMD

A

Gowers maneuver

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12
Q

gowers maneuver

A

waddling duck like gait where they place hands on knees to assist standing

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13
Q

what’s increased in the disease

A

creatine kinase

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14
Q

mean survival with Duchene muscular dystrophy

A

35 years old

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15
Q

genetic tests used to establish diagnosis

A

peripheral blood

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16
Q

patients with this have DECREASED amounts of dystrophin or a DEFECTIVE or abnormal form of dystrophin

A

Becker muscular dystrophy

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17
Q

onset of Becker muscular dystrophy

A

later than Duchennes

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18
Q

survival with Becker muscular dystrophy

A

well into 40s and beyond

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19
Q

treatment for Becker muscular dystrophy

A

immunosupression

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20
Q

most common adult muscular dystrophy

A

myotonic dystrophy

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21
Q

myotonia

A

sustained involuntary contraction of group of muscles

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22
Q

inheritance of myotonic dystrophy

A

autosomal dominant

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23
Q

type of disorder that myotonic dystrophy is and the chromosome it affects

A

trinucleotide repeat disorder on chromosome 19

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24
Q

what does myotonic dystrophy affect

A

mRNA for dystrophia myotonia protein kinase that results in defects affecting transcription of proteins for chloride channel

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25
Q

patient presentation with myotonic dystrophy

A

abnormal gait

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26
Q

what do tests for myotonic dystrophy show

A

elevated creatine kinase

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27
Q

group of diseases caused by mutations affecting function of ion channel proteins

A

ion channel myopathies

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28
Q

clinical manifestation of ion channel myopathies

A

epilepsy

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29
Q

what can ion channel myopathies affect

A

potassium

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30
Q

what do ion channel myopathies result in

A

hypotonia (decreased muscle tone) or hypertonia (increased muscle tone)

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31
Q

what are the clinical symptoms of malignant hyperpyrexia (malignant hyperthermia)

A

hyperbolic state - tachycardia, tachypnea, muscle spasms

32
Q

what triggers malignant hyperthermia

A

anesthetics

33
Q

what mutation leads to malignant hyperthermia

A

mutations that encode proteins that control levels of cytosolic calcium. Channels release calcium concontrollably.

34
Q

Is malignant hyperthermia a medical emergency

A

Yes. there is excessive heat production and increased muscle metabolism.

35
Q

often manifest in infancy and may include inborn errors of metabolism

A

congenital myopathies

36
Q

3 types of inflammatory myopathies

A

Infectious

37
Q

infectious inflammatory myopathies

A

necrotizing fasciitis, clostridial gangrene, etc.

38
Q

systemic disease inflammatory myopathies

A

systemic lupus

39
Q

Noninfectious inflammatory diseases (3)

A

dermatomyositis

40
Q

autoimmune disease w/immunologic injury and damage to small blood vessels and capillaries in skeletal muscle, along with skin involvment and characteristic rash

A

dermatomyositis

41
Q

main signs of dermatomyositis

A

muscle weakness

42
Q

presentation of rash

A

discoloration of upper eyelids, scaling red rash, dusty patches over knuckles, knees, and elbows

43
Q

presentation of muscle weakness

A

affects PROXIMAL MUSCLES first and is often SYMMETRIC

44
Q

what can be found with dermatomyositis

A

15-25% of patients have underlying malignancy

45
Q

what do patients have elevated

A

creatine kinase

46
Q

has muscle and systemic involvement but NO skin involvement

A

polymyositis

47
Q

where is polymyositism mainly seen (what age)

A

adults

48
Q

what are autoantibodies directed against in polymyositis

A

histidyl t-RNA synthetase

49
Q

what is though to cause polymyositis

A

activated CD8+ T cells

50
Q

what is elevated with polymyositis

A

creatine kinase

51
Q

treatment for polymyositis and dermatomyositis

A

immunosupressive agents

52
Q

typically affects people older than 50 and involves DISTAL MUSCLES FIRST

A

inclusion body myositis

53
Q

muscle pattern involvement with inclusion body myositis

A

asymmetric

54
Q

shows MODEST elevations of creatine kinase

A

inclusion body myositis

55
Q

does inclusion body myositis show benefit with immunosuppressive agents

A

No

56
Q

3 toxic myopathies

A

Thyrotoxic myopathy

57
Q

disease characterized by loss of function of the acetylcholine receptor

A

myasthenia gravis

58
Q

what can you detect with myasthenia gravis

A

autoantibodies that lead to degradation of the receptor

59
Q

what can some people have antibodies directed against?

A

tyrosine kinase - interferes with the function of the receptor

60
Q

what is myasthenia gravis often associated with

A

thymic abnormalities

61
Q

treatment for myasthenia gravis

A

anticholinesterase drugs

62
Q

presents with extremity weakness

A

lambert-eaton myastenia syndrome

63
Q

what does lambert-eaton myastenia syndrome have autoantibodies directed against

A

presynaptic calcium channels - block acetylcholine release

64
Q

what can increase muscle response with lambert-eaton myastenia syndrome

A

rapid repetitive stimulation of the muscle

65
Q

what is lambert-eaton myastenia syndrome often seen with

A

paraneoplastic syndrome w/malignancy present in 60% (often small cell lung carcinoma)

66
Q

do patients show improvement w/anticholinesterase agents

A

No

67
Q

enzyme that converts creatine to phosphocreatine

A

creatine kinase

68
Q

creatine kinase that skeletal muscle expresses

A

CK-MM

69
Q

creatine kinase that gets expressed as skeletal muscle is damaged

A

CK-MB

70
Q

creatine kinase expressed at low levels in many tissues

A

CK-BB

71
Q

where is creatine kinase released when cells are damaged

A

interstitial space and blood

72
Q

conditions with elevated creatine kinase

A

acute myocardial infart

73
Q

used for diagnosing acute myocardial infart

A

cardiac troponin I

74
Q

when is total creatine kinase helpful in assessment of skeletal muscle injury

A

when there is absence of cardiac disease or other conditions that may cause increased CK

75
Q

where is myoglobin found

A

skeletal and cardiac muscle

76
Q

disease where elevated levels of myoglobin can cause acute tubular necrosis with acute renal failure

A

rhabdomyolysis

SKIN/MS FINAL (6 decks)

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