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Neuro > Myopathies > Flashcards

Myopathies Flashcards

1
Q

Neurologic Ddx of weakness

A
  • UMN
  • LMN
  • NMJ
  • muscle
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2
Q

Three major groups of myopathies

A

1) muscular dystrophies
2) inflammatory myopathies
3) metabolic myopathies

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3
Q

What are “dystrophic” features of muscles?

A

1) fiber splitting

2) increased CT

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4
Q

Five major muscular dystrophies

A

1) Duchenne
2) Becker
3) FSH
4) Myotonic
5) Limb Girdle

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5
Q

Two minor muscular dystrophies

A

1) Emery Dreifuss

2) Oculo-pharyngeal muscular dystrophy

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6
Q

What are the inheritance patterns of the major muscular dystrophies?

A

Duchenne and Becker- XR
FSH and myotonic- AD
Limb Girdle- Can be AD vs AR on multiple chromosomes

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7
Q

Duchenne/ Becker chromosome

A

21 deletion

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8
Q

FSH assc chromosome?

Myotonic assc chromosome?

A

FSH- 4

Myotonic- 19

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9
Q

When do the major muscular dystrophies onset?

A

Duchenne and Becker: early (5-10 years old)

Others: 10-30 years of age

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10
Q

Where is primary weakness in Duchenne/ Beckers?

A

pelvic region first

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11
Q

Where is primary weakness in Myotonic dystrophy?

A

-distal

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12
Q

Which muscular dystrophies involve the face?

A
  • FSH, myotonic
  • Later in disease Duchenne, Becker
  • None in limb girdle
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13
Q

What EKG abnormality is seen in muscular dystrophies? Which major dystrophy is an exception?

A

Deep narrow Q waves in L precordial leads

except FSH which has normal EKG

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14
Q

Which of the muscular dystrophies have elevated CK?

A

Duchenne, Becker, Limb Girdle

Normal in FSH, myotonic

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15
Q

Duchenne:

  • biopsy appearance
  • specific gene involved
A
  • macs invade necrotic muscle fibers, missing dystrophin on stain
  • dystrophin out of frame mutation
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16
Q

Contrast Duchenne mutation w/ Beckers

A

Duchenne: out of frame mutation
Beckers: in frame mutation

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17
Q

Classic symptomatic features of DMD:

A
  • waddling gait
  • lumbar lordosis
  • calf pseudohypertrophy
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18
Q

Life threatening complications of DMD (2)

+ life expectancy

A
  • cardiomyopathy
  • intestinal pseudo-obstruction

(death by cardiorespiratory failure around age 20)

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19
Q

Treatment for DMD

A

No cure, can prolong course with steroids if started at 4-7 years of age.

(stabilizes sarcolemma, increases muscle mass)

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20
Q

Female DMD carrier symptoms

A

mild compared to diseased males

  • risk CVD, weakness, cognitive/behavioral issues
  • myalgia, ^^CK/ aldolase are are possible
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21
Q

Beckers:

  • life expectancy
  • onset
A
  • live beyond 30 (DMD death by 20)
  • Does not onset until ~12 years
  • less likely to have complications outside of weakness
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22
Q

FSH:

  • muscle groups involved
  • life expectancy
A
  • facial
  • scapular
  • humeral
  • peroneal

-normal life expectancy

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23
Q

Clues to FSH on exam

A
  • down sloping shoulders
  • winged scapula
  • prominent clavicles
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24
Q

Contrast Myotonic Dystrophy types 1 and 2

A
  • Type 1: Distal weakness, common

- Type 2: Proximal, rare

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25
Q

Gene assc with MD1

A

CTG repeat at DMPK gene

Cats Throw Goldfish) and (Dumb Mammals Punch Kids

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26
Q

MD1:

  • personality
  • assc findings (6)
A

-avoidant personality

  • early cataracts
  • hypersomnia
  • hypogonad
  • ID
  • insulin resistance
  • cardiac arrhythmia
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27
Q

What muscle groups are atrophied in MD?

A
  • face
  • neck
  • finger
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28
Q

“Limb Girdle” refers to what part of the body?

A

hip and shoulders

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29
Q

What proteins are most common disordered in LGMD?

A

-sarcolemmal proteins

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30
Q

Typical course of LGMD

A
  • slow
  • symmetric
  • proximal
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31
Q

What are the two types of LGMD?

A
  • LGMD1 dominant

- LGMD2 recessive

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32
Q

Emery Dreiffus Types 1 and 2:

genetic defect

A

Type 1: Emerin mutation, Recessive
Type 2: Lamin A/C mutation, may be dominant or recessive

*alphabetic order (1 emerin –> 2 lamin)

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33
Q

What ED type is assc with contractures and cardiac abnormalities:?

A

-ED1

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34
Q

Oculopharyngeal Muscular Dystrophy:

mutation

A

-AD mutation in PABN1 (GCG) or PABN1 (GCA)

**Gag Cough Gag or Gag Cough Aspirate

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35
Q

OPMD Clinical Features

A
  • Ptosis
  • EOM weakness
  • Dysphagia
  • Reduced Gag
36
Q

Treatment OPMD

A
  • oculoplasty

- PEG

37
Q

What are the three inflammatory myopathies?

A
  • dematomyositis
  • polymyositis
  • inclusion body myositis
38
Q

Which inflammatory myopathy is assc with rash and responds to steroids?

A

DERMATOmyositis

39
Q

Distribution of weakness in Inflammatory myopathies:

A
  • proximal in dermatomyositis and polymyositis

- distal and proximal/ assymetric in inclusion body

40
Q

Which of the three inflammatory myopathies has an unequal sex distribution?

A
  • Inclusion body is more common in males

- dermato and poly are either more common in female or equal (her slides are contradictory)

41
Q

Which of the two inflammatory myopathies may be assc with cancer?

A

-dermato vs poly myositis

42
Q

Three tests for inflammatory myopathies:

A
  • CK
  • EMG
  • Biopsy
43
Q

CK findings in the three inflammatory myopathies

A
  • ^^ in dermato/polymyositis

- may or may not be elevated in inclusion body myositis

44
Q

EMG/ NCS findings in inflammatory myopathies

A
  • myopathic in all three

- also neuropathic in inclusion body

45
Q

Biopsy findings for:

  • dematomyositis
  • polymyositis
  • inclusion body myositis
A
  • dermatomyositis: perifasicular atrophy
  • polymyositis: inflammatory (endomysial inflammation) v normal
  • inclusion bodies: bodies + rimmed vacuoles
46
Q

Which of the inflammatory myopathies may be seen in children?

A

-dermatomyositis
(also seen in 40+)
-poly in adults
-inclusion body in elderly

dermato –> poly –> inclusion body

47
Q

What is a sign of proximal muscle weakness?

A

difficult standing from seated position or trouble lifting arms above head

48
Q

Polymyositis treatment

A

-immunosuppression

49
Q

Why might dermatomyositis be more common in women?

A

assc with breast and gyne cancers

also lung

50
Q

Describe dermatomyositis rash

A
  • Grottons sign (rash at hands)
  • helipotrope (rash at eyes)
  • also cape like distribution rash
51
Q

In addition to weakness and rash, what are features of dermatomyositis?

A

-cardiorespiratory involvement

52
Q

Inclusion Body Myositis:

muscle groups involved

A

finger and wrist flexors

quads

53
Q

Treatment Inclusion Body Myositis

A

Poor response to steroids/ immunosuppression

54
Q

What systems are altered in metabolic myopathies? What is the typical inheritance pattern?

A

glycogen metabolism
lipid metabolism
electrolyte imbalance
mitochondria

AR

55
Q

What are the four glycogenoses + their assc enzymes

A
  • McArdles (=myophosphorylase)
  • Pompes (=acid maltase)
  • Tauri (= PFK Def)
  • Cori-Forbes (debrancher deficiency)
56
Q

Two lipidoses leading to myopathies

A
  • carnitine deficiency

- carnitine palmitoyl transferase deficiency

57
Q

Four Channelopathies leading to myopathies

A

1) hyperkalemic perioidic paralysis
2) hypokalemic PP
3) Myotonia congenita
4) Paramyotonia congenita

58
Q

Three mitochondrial myopathies

A
  • Kearns Sayre
  • MERRF
  • MELAS
59
Q

Characteristic of weakness in glycogenoses/ lipidoses

A

exercise intolerance

60
Q

Diagnoses of glycogenoses/ lipidoses?

A
  • myoglobinuria following exercise
  • elevated CK
  • EMG myopathies featuers
  • biopsy (biochemical analysis)
61
Q

What are types II, III, V, VII glycogen storage diseases?

A

II- Pompes
III- Cori/Forbes
V- McArdles
VII- Tauri

PLEASE CUT MY TAG! = 2 3 5 6

62
Q

Pompes (II, acid maltase) 2 characteristics

A

1) fixed proximal weakness

2) early cardiorespiratory insufficiency (Pompes effects the pump-heart)

63
Q

Cori-Forbes (III, debrancher) 2 features

A

1) distal weakness

2) cardiomyopathy

64
Q

McArdles (V, myophosphorylase) 3 features

A

1) cramps
2) myoglobinuria
3) second wind phenomenon

65
Q

Tauri Disease (VII, PFK Def) 2 characteristics

A

1) exercise intolerance
2) myoglobinuria
(true of most glycogen storage diseases….)

66
Q

Lipid Storage disease:

  • when are symptoms worst?
  • biopsy findings?
A
  • flares with fasting

- lipid storage vacuoles

67
Q

Four features of lipid storage disease?

A
  • proximal weakness
  • swollen muscles w/ exercise
  • high CK
  • myoglobinuria
68
Q

Channels involved in hypokalemic and hyperkalemic periodic paralyses

A
  • hypo: L type Ca Channel

- hyper: SCN4A (Na) Channel

69
Q

Contrast weakness in hyper/hypokalemic PP:

A
  • hypo: lasts hours- days
  • hyper: relieved quickly by eating or exercise

both occur after rest following carb load or exercise

70
Q

Channels involved in myotonia congenital/ paramyotonia congenital

A
  • myotonia: CLCN1- hypertrophy

- paramyotonia: CLCN1 or SCN4A

71
Q

What triggers paramyotonia congenital?

A
  • exercise

- cold

72
Q

Mitohondrial myopathies:

  • deficiency of ____
  • two organ systems most effected
  • inheritance pattern
A
  • ATP
  • brain, muscle
  • maternal
73
Q

Biopsy findings in mitochondrial myopathies

A

ragged red fibers

74
Q

Provoked necrotizing polymyopathy is also known as?

A

-rhabdomyolsis with myoglobinuria

75
Q

Cause of provoked necrotizing polymyopathy

A

crush injury

extreme exertion

76
Q

Who is most susceptible to necrotizing polymyopathy?

A

glycogen disorders

77
Q

Defect in phosphodiesterase makes patient susceptible to?

A

Malignant hyperthermia

78
Q

What anesthetics should be avoided in RYR1 mutation?

A
  • halothane

- succinylcholine

79
Q

What are four systemic illnesses that may lead to myopathy?

A
  • hypothyroid
  • critical illness
  • acromegaly
  • cushings
80
Q

Muscle biopsy findings in critical illness myopathy

A

loss of myosin

81
Q

Acromegaly/ Cushings:

distribution of weakness

A
  • proximal

* Cushings mainly of lower extremities

82
Q

Common feature of hypothyroid + critical illness myopathy

A

-loss of DTRs

83
Q

EMG findings in myopathies

A

1) low amplitude
2) short duration
3) polyphasic + rapid recruitment

84
Q

Six meds that cause myopathy

A

1) steroids
2) statins
3) AZT
4) colchicine
5) chloroquine
6) rifampin
(Some Sucky Asians Cant Cook Rice)

++ alcohol

85
Q

Why do statins lead to myopathy?

A

-inhibit synthesis of mevalonic acid = no coenzyme Q needed for ATP production

86
Q

Myopathy type assc with AZT

A

mitochondrial

Neuro (15 decks)

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