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BMS 150 Midterm 2 > Pathology - Skeletal Muscle Pathology > Flashcards

Pathology - Skeletal Muscle Pathology Flashcards

1
Q

what are the characteristics of muscular dystrophies

A

muscle fiber necrosis and regeneration

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2
Q

what is Duchenne muscular dystrophy?

A

X-linked, loss of function mutation of a structural protein call dystrophin

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3
Q

what is the most common muscular dystrophy

A

Duchenne Muscular Dystrophy

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4
Q

Dystrophin is a key component of the

A

dystrophin glycoprotein complex

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5
Q

the dystrophin glycoprotein complex provides

A

mechanical stability to the muscle fiber and it’s cell membrane during muscle contraction

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6
Q

defects in the dystrophin glycoprotein complex can lead to what?

A

sarcolemma tears: calcium influx from ECF -> ultimately triggering muscle fiber necrosis

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7
Q

for Duchenne muscular dystrophy, weakness begins in ? and extends to ?

A

pelvic girdle muscles
shoulder girdle

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8
Q

what is a test for Duchenne muscular dystrophy?

A

Gower’s sign

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9
Q

For Duchenne muscular dystrophy patients, what is remarkedly elevated in first decade of life then decreases as diseases progresses

A

creatine kinase

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10
Q

what is generally similar but less severe than Duchenne Muscular dystrophy and has slower progression

A

Becker Muscular Dystrophy

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11
Q

what is becker muscular dystrophy?

A

X-linked mutation in dystrophin which results in truncated dystrophin protein that retains partial function

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12
Q

what is myotonia?

A

sustained involuntary muscle contractions

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13
Q

what is myotonic dystrophy?

A

autosomal dominant disorder caused by expanision of triplet repeats

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14
Q

what are the two types of myotonic dystrophy

A

type I and II

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15
Q

what is type I myotonic dystrophy?

A

expansion of CGT trinucleotide repeat within the myotonic dystrophy protein kinase (DMPK) gene

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16
Q

what is type II myotonic dystrophy?

A

CCTG repeat expansion within the gene nucleic acid-binding protein (CNBP) gene

17
Q

what is the most common drug-related myopathy?

A

statin myopathy

18
Q

myopathy is thought to result from?

A
  • Decreased cholesterol concentrations may impact sarcolemma
  • Depletion of Coq10 (Ubiquinone)
19
Q

what is myasthenia Gravis?

A

Autoimmune condition associated with autoantibodies directed against acetylcholine receptors

20
Q

what is a tumour of thymic epithelial cells

A

thymoma

21
Q

what are common initial findings of myasthenia gravis?

A

ptosis and diplopia

22
Q

what is a red flag for myasthenia gravis?

A

Myasthenic crisis

23
Q

what is the first line of treatment for myasthenic crisis?

A

acetylcholinesterase inhibitors

24
Q

what are two common types of skeletal muscle tumours

A

rhabdomyosarcoma and synovial cell sarcoma

25
Q

what is the most common soft tissue sarcoma of childhood?

A

alveolar and embryonal rhabdoomyosarcoma

26
Q

what are the 4 subtypes of rhabdomyosarcoma

A

Alveolar, Embryonal, Pleomorphic, Spindle cell/sclerosis

27
Q

what is rhabdomyosarcoma?

A

malignant mesenchymal tumour with skeletal muscle differentiation

28
Q

what is the malignant cell of rhabdomyosarcoma?

A

rhabodomyoblast

29
Q

what are rhabodomyoblast rich in

A

myosin and actin filaments

30
Q

what is the most common soft tissue tumour in adolescents and young adults?

A

synovial cell sarcoma

31
Q

what is fibromyalgia?

A

Syndrome of persistent widespread pain, stiffness, fatigue, disrupted sleep, and cognitive difficulties. It is often accompanied by anxiety/depression and impairment of activities of daily living.

32
Q

what is used to diagnose fibromyalgia?

A

widespread pain index - score of 0-19
AND
Self-adminstered patient questionnaire - score of 0-12

33
Q

what is chronic fatigue syndrome

A

Characterized by unexplained and profound fatigue that is worsened by exertion
- Accompanied by cognitive dysfunction and impairment of daily functioning that persists for at least 6 months

34
Q

what is another name of chronic fatigue syndrom

A

Myalgic encephalomyelitis

BMS 150 Midterm 2 (30 decks)

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