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Pathology > Skeletal muscles myopathies and dystrophies > Flashcards

Skeletal muscles myopathies and dystrophies Flashcards

1
Q

Which type of atrophy Involve type I and type II fibers ?

A

Denervation atrophy

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2
Q

Complete loss of myofibrils – nuclei condense and aggregate -atrophy

Which type of atrophy?

A

Denervation atrophy

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3
Q

End stage, muscle fibers disappear and replaced by adipose tissue

Which type of atrophy ?

A

Denervation atrophy

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4
Q

Associated with prolonged immobilization

Which type of atrophy?

A

Disuse

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5
Q

Involve type II fibers only

Which type of atrophy?

A

Disuse

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6
Q

heterogeneous group of inherited disorders of muscle

Which type of dystrophy?

A

MUSCULAR DYSTROPHIES

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7
Q

MUSCULAR DYSTROPHIEe begging ? Leads to?

A

beginning in childhood • It is lead to progressive weakness and muscle wasting.

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8
Q

MUSCULAR DYSTROPHIES’s Histologically?

A

advanced cases muscle fibers undergo degeneration and are replaced by
fibrofatty tissue and collagen.

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9
Q

Which feature distinguishes dystrophies from myopathies which also present with muscle
weakness.?

A

muscle fibers undergo degeneration and are replaced by

fibrofatty tissue and collagen.

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10
Q

: X-linked Duchenne & Becker muscle dystrophy.

Mutation in?

A

Mutation in dystrophin

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11
Q

autosomal limb-girdle muscular
dystrophy

Mutation in?

A

Mutation in Caveolin and Sacroglycan

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12
Q

congenital muscular dystrophy.

Mutation in ?

A

Mutation in Laminin:

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13
Q

two most common forms of muscular dystrophy are?|

A 
Duchenne
muscular dystrophy (DMD) and Becker muscular dystrophy (BMD).
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14
Q

most severe and common form of muscular dystrophy?

A

DMD

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15
Q

clinically manifest by the age of 5 years. It leads to wheelchair
dependence by 10 to 12 years of age, and thereafter progresses persistently which type of dystrophy?

A

DMD

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16
Q

is less common and much less
severe than DMD
?

A

BMD

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17
Q

very large protein found in skeletal and cardiac muscle, brain, and
peripheral nerves ?

A

Dystrophin

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18
Q

Muscle biopsy specimens from individuals with DMD show ?

A

little or no dystrophin

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19
Q

Muscle biopsy specimens from individuals with BMB show?

A

, have diminished

amounts of dystrophin.

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20
Q

This complex stabilizes
the muscle cell during contraction and may be involved in cell signaling through
interaction with other proteins. ?

A

dystrophin-glycoprotein complex .

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21
Q

Dystrophin-glycoprotein complex defects are thought to make ?

A

muscle cells vulnerable to

transient membrane tears during contraction that lead to calcium influx.

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22
Q

Dystrophin-glycoprotein complex defects are thought to make muscle cells vulnerable to
transient membrane tears during contraction that lead to calcium influx. • The result is ?

A

myofiber degeneration that with time outpaces the capacity for repair.

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23
Q

important for cardiac muscle function; this
explains why cardiomyopathy eventually develops in many patients
?

A

dystrophin-glycoprotein complex

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24
Q

X-Linked Muscular Dystrophy

Affected ? Carrier? Explain

A

In the affected families’ females are carriers; they are clinically
asymptomatic but often have elevated serum creatine kinase and show
minimal histologic abnormalities on muscle biopsy. • Female carriers and affected males who survive into adulthood are also at
risk for developing dilated cardiomyopathy

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25
Q

histologic alterations in skeletal muscles affected by DMD and BMD are?

A

similar except that

the changes are milder in BMD

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26
Q

Morphology of DMD and BMB? And later stages?

A

Variation in fiber size (2) Increased numbers of internalized nuclei (3) Degeneration, necrosis, and phagocytosis of muscle fibers (4) Regeneration of muscle fibers (5) Proliferation of endomysial connective tissue • In later stages the muscles eventually become almost totally replaced by fat and connective tissue. • Cardiac involvement, when present, consists of interstitial fibrosis

27
Q

symptomatic later in childhood or adolescence and progresses at a slower and more variable rate? Type of x-linked Muscular Dystrophy ?

A

BMB

28
Q

Many patients live well into adulthood and have a nearly normal life span. Type of x-linked muscular dystrophy?

A

BMD

29
Q

Cardiac involvement can be the dominant clinical feature and may result in
death in the absence of significant skeletal muscle weakness.
Type of x-linked muscular dystrophy?

A

BMD

30
Q

Duchenne MD clinically ?

A

Affect males, female are carrier. • Rapidly progressive skeletal muscle weakness (proximal more than distal) • Delayed developmental millstone • Frequent fall • Difficulty in walking, running and climbing stairs or hills.

Cardiomyopathy • Mental retardation • Night blindness • Death 15-25 years due to respiratory or cardiac failure

31
Q

What is Gower sign and where does it occur ?

A

Difficulty in rising (Gower sign) standing up with the aid of hands pushing on knees • Characteristic gait shown by walking on their toes

Duchenne MD:

32
Q

Calf pseudo dystrophy ( due to muscle fibrosis, not enlarged muscle fibers). • Serum CK very high

Is shown in ?

A

Duchenne MD

33
Q

Investigations of MD?

A

• EMG: Myopathic pattern • Muscle biopsy • Genetic studies

34
Q

Muscle of shoulder and pelvic girdle or both with variable rates of
progression
Why type of MD?

A

Limb girdle MD

35
Q

Mutation Caveolin & Sacroglycan ? Type of MD?

A

Limb girdle MD

36
Q

Onset late first and second decade, sever disability within 20-30 years type of MD?

A

Limb girdle MD

37
Q

Diagnosis by exclusion

Type of MD?

A

Limb girdle MD

38
Q

Most common form of adult muscular dystrophy ?

A

Myotonic dystrophy

39
Q

AR (less frequently AD) type of MD?

A

Limb girdle MD

40
Q

AD which type of MD?

A

Myotonic dystrophy

41
Q

Slowing muscle relaxation once contracted

Type of MD/

A

Myotonic dystrophy

42
Q

bedside test of Myotonic dystrophy

?

A

Difficulty in releasing hand grip

43
Q

Expansion of a CTG nucleic acid triplet

Type of MD?

A

Myotonic dystrophy

44
Q 
Multisystem disease (smooth muscle, CNS, endocrine gland and eye) with major cardiac
involvement. • Features: myotonia, muscle weakness, cataract, arrhythmias, diabetes and testicular atrophy

Type of MD?

A

Myotonic dystrophy

45
Q

Congenital myopathy

Onset?

A

Progressive, early onset

46
Q

Characterized by Floppy infant syndrome ( marked generalized hypotonia at
birth). ?

A

Congenital myopathy

47
Q

Congenital myopathy

Characteristics?

A

CNS abnormality can occur. • Absent mitochondria • Normal serum CK

48
Q

Caused by Immune mediated antibodies (commonest) ?

A

Neuromuscular junction disorder: NMJ

49
Q

autoantibody to NMJ postsynaptic acetyle-choline receptors (Acho)
Type ?

A

Mysthenia gravis

50
Q

autoantibody to NMJ presynaptic type?

A

Lembert Eaton syndrome

51
Q

Neuromuscular junction disorder: NMJ

Causes: ?

A

Immune mediated antibodies (commonest)  Mysthenia gravis: autoantibody to NMJ postsynaptic acetyle-choline receptors (Acho)  Lembert Eaton syndrome: autoantibody to NMJ presynaptic • Genetic defect in neuromuscular junction protein • Infections: bacterial toxins (clostridium tetani, Clostridium botulinum)

52
Q

Risk: • Mythenia gravis? Lambert Eaton syndrome:?

A

Mythenia gravis: associated with thymic abnormality • Lambert Eaton syndrome: associated with small cell lung cancer

53
Q

Autoimmune disorder • Age less than 40 years • Female more than male ?

A

Myasthenia gravis MG

54
Q

Pathophysiology: • Autoantibody against Ach. Receptor post synaptic – degradation ,
depletion and destruction of receptor – insufficient muscle contraction

Type?

A

Myasthenia gravis MG

55
Q

Clinical feature: • Weakness involving the extraocular and facial muscles, muscles of
extremities and other muscle groups • Ptosis or diplopia, difficulty in chewing, speaking or swallowing. ? Type?

A

Myasthenia gravis MG

56
Q

Complication of Myasthenia gravis MG

?

A

respiratory failure.

57
Q

Investigation of Myasthenia gravis MG

?

A

acetylcholine receptor antibody level

58
Q

Dramatic improvement with drugs? Myasthenia gravis MG

A

anticholinesterase activity

59
Q

Infectious myositis?

A

granulomatous myositis

60
Q

Non infectious myositis:?

A

autoimmune): 1. Polymyositis (PM) 2. Dermatomyositis (DM) 3. Inclusion body myositis (IBM)

61
Q

Patient with sarcoidosis will have ?

A

granulomatous myositis ( giant cell 0

62
Q

Mononuclear inflammatory cell infiltrate and many basophils regenerating fibers ?

A

Polymyositis

63
Q

Skin erthematous rash characteristics manifestation of ?

A

Dermatomyositis

64
Q

? Occurs in childhood as a for of fermatomyosis ?

A

Vasculitis

Pathology (4 decks)

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