Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

BMS150 Midterm 2 > Pathology - Skeletal Muscle Pathology > Flashcards

Pathology - Skeletal Muscle Pathology Flashcards

1
Q

Group of inherited muscle disorders leading to progressive weakness and muscle wasting

A

Muscular dystrophies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are characteristics of muscular dystrophies?

A

Muscle fiber necrosis and regeneration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Most common muscular dystrophy?

A

Duchenne muscular dystrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Duchenne MD Etiology?

A
  • X-linked
  • LOF of dystrophin
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Deletion or frameshift mutations result in ______ of dystrophin

A

total absence

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is dystrophin a key component of?

A

Dystrophin glycoprotein complex

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What does the dystrophin glycoprotein complex do?

A

spans the plasma membrane - linking the cytoskeleton of the muscle fiber with the basement membrane

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Defects in dystrophin glycoprotein complex leads to what?

A

Sarcolemma tears = ca influx from ECF = necrosis of muscle fibers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

As Duchennes MD progresses, what replaces muscle tissue?

A

Collagen and fat cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is (+) Gower’s sign?

A

Patient has to push off of thighs in order to stand up

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Where does weakness begin in Duchenne MD?

A

Pelvic girdle muscles and shoulder girdle

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What can develop in older patients with Duchenne MD?

A

Cardiomyopathies and arrythmias

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Duchenne diagnosis?

A
  • Progressive loss of creatine kinase
  • Genetic testing (definitive)
  • Muscle biopsies
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Etiology of Becker MD?

A
  • X-linked
  • Truncated dystrophin due to mutation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Difference between Duchenne and Becker MD?

A

No dystrophin function in Duchenne, but partial function in Becker

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

definition of myotonia?

A

sustained involuntary muscle contraction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Inheritance pattern of myotonic dystrophy?

A

Autosomal dominant disorder caused by expansion of triplet repeats

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Type I Myotonic Dystrophy?

A

Expansion of CGT tri-nt repeat in DMPK gene

19
Q

Type II Myotonic Dystrophy?

A

CCTG repeat expansion in CNPB gene

20
Q

Type I Myotonic Dystrophy Pathogenesis?

A

Toxic gain of function = disrupted splicing of mRNA transcript of other proteins, including transcript of chloride channel

21
Q

Type II Myotonic Dystrophy Pahtogenesis?

A

CNPB gene codes for a zinc-finger binding domain

22
Q

Is type I or type II myotonic dystrophy more sever?

A

type I more severe

23
Q

Patients with type I will also experience myotonia of what?

A

Involuntary muscles

24
Q

Where does type II myotonic dystrophy tend to affect?

A

Proximally located muscles (thigh or hip)

25
Q

Most-common drug-related myopathy?

A

Statin myopathies

26
Q

Pathophysiology of statin myopathies?

A
  • decreased cholesterol may impact sarcolemma
  • depletion of CoQ10
27
Q

Enzyme blocked by statins?

A

HMG-CoA reductase

28
Q

Autoimmune condition associated with autoantibodies directed against acetylcholine receptors?

A

Myasthenia Gravis

29
Q

There is a strong association between anti-Ach receptor autoantibodies and _____ abnormalities

A

thymic

30
Q

What does the limit of the ability of the myofiber to respond to Ach at the neuromuscular junction do?

A
  • impact turnover of Ach receptors
  • Blocks activation of Ach receptors
  • Damage neuromuscular junction
31
Q

Common initial findings of MG?

A

Ptosis and diploplia

32
Q

Redflag of MG?

A

Myasthenic crisis = Respiratory weakness becomes severe enough to necessitate intubation

33
Q

Nearly all skeletal muscle tumors are _______

A

Malignant

34
Q

Malignant mesenchymal tumour with skeletal muscle differentiation

A

Rhabdomyosarcoma

35
Q

4 subtypes of Rhabdomyosarcoma?

A

Alveolar, Embryonal, Pleomorphic, spindle cell

36
Q

Most common soft tissue sarcoma of childhood?

A

Alveolar and embryonal rhabdomyosarcoma

37
Q

Most common soft tissue tumour in adolescents and young adults?

A

Synovial cell sarcoma

38
Q

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

A

Fibromyalgia

39
Q

Who is fibromyalgia most common in?

A

Young-adult to middle-aged females

40
Q

What type of disorder is fibromyalgia considered?

A

Neurosensory disorder characterized in abnormalities in pain processing by the CNS

41
Q

Fibromyalgia diagnosis?

A

WPI and self-administered patient questionnaire

42
Q

Unexplained and profound fatigue that is worsened by exertion

A

Chronic Fatigue Syndrome

43
Q

Who is mainly affected by chronic fatigue syndrome?

A

Young to middle-aged adult females

44
Q

Diagnostic criteria for chronic fatigue syndrome?

A
  • Fatigue - unrelated to exertion and not relieved by rest
  • Post-exertional malaise (PEM)
  • Unrefreshing sleep – fatigue despite a night’s sleep

+ either cognitive impairment and/or orthostatic intolerance

BMS150 Midterm 2 (14 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions