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NMSP - Exam 2 > Diseases of Skeletal Muscle > Flashcards

Diseases of Skeletal Muscle Flashcards

1
Q

What are 3 Inflammatory Myopathies?

A
  1. Dermatomyositis
  2. Polymyositis
  3. Inclusion Body Myositis
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2
Q

What histologic change is seen with Dermatomyositis?

A

Perifascicular Atrophy

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3
Q

Generally, what are the signs of Dermatomyositis?

A

Skin changes

Proximal bilateral muscle weakness

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4
Q

What unique skin changes and where are seen with Dermatomyositis?

A
  • Lilac/Heliotrope discoloration of the upper eyelid

- Periorbital edema

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5
Q

Lilac/Heliotrope discoloration of upper eyelids, periorbital edema and telangiectasias can be seen with?

A

Dermatomyositis

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6
Q

What specific lesions can present with Dermatomyositis?

A

Grotton Lesions

- red/dusky patches over knuckles, elbows, knees

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7
Q

Dermatomyositis involves proximal bilateral muscle weakness. What 3 other things can be present?

A

ILD
Dysphagia
Cardiac involvement

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8
Q

What autoantibodies with Dermatomyositis cause the heliotrope rash and grotton lesions?

A

Anti-Mi2

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9
Q

What autoantibodies with Dermatomyositis cause the ILD?

A

Anti-Jo1

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10
Q

What autoantibodies with Dermatomyositis can cause the juvenile cases and when does that present?

A

7 years old

= Anti-P155/140

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11
Q

What are the 2 signs of Juvenile Dermatomyositis?

A

Calcinosis

Lipodystrophy

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12
Q

Patients with Dermatomyositis have an increased risk of?

A

Visceral (occult) cancers

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13
Q

What are the symptoms of Dermatomyositis?

A
  • Lilac/heliotrope discoloration of upper eyelids
  • Periorbital edema
  • Telangiectasias
  • Grotton Lesions
  • Proximal Bilateral muscle weakness
  • Dysphagia
  • ILD
  • Cardiac involvement
  • Occult malignancies
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14
Q

What mediates Polymyositis?

A

CD8 T cells

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15
Q

What histo change is seen with Polymyositis?

A

Endomysial mononuclear infiltrate

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16
Q

What are the symptoms of Polymyositis?

A

Proximal bilateral muscle weakness and pain

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17
Q

Proximal bilateral muscle weakness and pain

A

Polymyositis

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18
Q

What are the symptoms of Inclusion Body Myositis?

A

Asymmetric progressive weakness of quadriceps, wrist and finger flexors

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19
Q

Asymmetric progressive weakness of quadriceps, wrist and finger flexors

A

Inclusion body myositis

20
Q

What muscles are weak with Inclusion Body Myositis?

A

Quadriceps

Wrist and finger flexors

21
Q

What histo change will be seen with Inclusion Body Myositis?

A

Rimmed vacuoles with reddish granules around periphery

22
Q

Rimmed vacuoles with reddish granules around periphery

A

Inclusion Body Myositis

23
Q

Which of the Inflammatory Myopathies does NOT respond to steroids or immune suppression?

A

Inclusion Body Myositis

24
Q

What 2 types of drugs can cause toxic myopathies?

A

Statin drugs

Anti-malarial drugs

25
Q

Anti-malarial drugs can cause what things to be affected with its myopathy?

A

Type 1 fibers

Cardiac muscle

26
Q

ICU myopathy involves a ____ deficit

A

Myosin deficit

27
Q

ICU myopathy

A

Illness with corticosteroid treatment

28
Q

How is Central Core Disease inherited?

A

AD

29
Q

What mutation is present with Central Core Disease?

A

RYR1 mutation

30
Q

RYR1 mutation

A

Central Core Disease

31
Q

What are the general symptoms of Central Core Disease?

A

Malignant Hyperthermia and myopathy

32
Q

Increased HR, RR, muscle spasms and hyperpyrexia may be?

A

Central Core Disease

– malignant hyperthermia and myopathy

33
Q

What triggers Central Core Disease and then what happens?

A

Anesthetics

  • -> increased efflux of calcium
  • -> tetany and heat production
34
Q

What triggers Central Core Disease and what happens?

A

Anesthetics

  • -> increased efflux of calcium
  • -> tetany and heat production
35
Q

How is Spinal Muscular Atrophy inherited?

A

AR

36
Q

What is lost with Spinal Muscular Atrophy?

A

Loss of spinal cord anterior horn cells => loss of motor neurons

37
Q

Loss of spinal cord anterior horn cells that causes loss of motor neurons

A

Spinal Muscular Atrophy

38
Q

What is a sign of Spinal Muscular Atrophy?

A

FLOPPY BABY = generalized hypotonia

39
Q

What gene on what chromosome is deficient with Spinal Muscular Atrophy?

A

SMN1 on chr. 5

40
Q

SMN1 on chr. 5 mutation

A

Spinal Muscular Atrophy – floppy baby (generalized hypotonia)

41
Q

What myofibers will be seen histologically with Spinal Muscular Atrophy?

A

Atrophic + normal + hypertrophied myofibers

42
Q

What is the most common type of Spinal Muscular Atrophy?

A

Wernig-Hoffman

43
Q

What will be the signs of Wernig-Hoffman (spinal muscular atrophy)?

A

Muscle weakness

  • -> chewing, swallowing and breathing difficulties
  • -> death by 3 yo
44
Q

What will be the signs of Wernig-Hoffman?

A

Muscle weakness

  • -> chewing, swallowing and breathing difficulties
  • -> fatal by 3 yo
45
Q

What is an Ion Channel Myopathy?

A

Central Core Disease

– malignant hyperthermia and myopathy

NMSP - Exam 2 (29 decks)

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