Muscle disorders Flashcards

1
Q

What five body parts can be impacted by myopathies?

A

Muscles
Respiratory
The heart
Bowel and bladder
Kidney

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

What is proximal/pelvic weakness?

A

Issues raising the arms, gait issues

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

What can distal weakness lead to?

A

Trips and falls and hand weakness

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

What are some symptoms of facial weakness?

A

Sleep with eyes open and issues pouting

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

What are some symptoms of bulbar weakness?

A

Chewing and swallowing issues, aspiration and weak cough

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

When diagnosed with myopathy, what would be seen on an MRI?

A

Muscle being replaced by fat

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

What is the issue with raised creatine kinase?

A

Can clog the kidneys

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

What are some examples of acquired processes for developing myopathies?

A

Autoimmune, inflammatory, toxins, endocrine

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

What gene leads to myotonic dystrophy?

A

DMPK gene

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

What hereditary process is myotonic dystrophy from?

A

Autosomal dominant

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

How many times does the CTG repeat need to be repeated for someone to show symptoms of myotonic dystrophy?

A

Over 50 times

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

What is a normal number of CTG repeats?

A

5-37

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

What are some symptoms of myotonic dystrophy?

A

Bulbar, respiratory, foot drop, frontal balding, cognition, cataracts, high testosterone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Through each generation, do repeats of the CTG gene increase or decrease?

A

Increase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is the main cause of Duchenne’s disease?

A

Genetic, X-linked disorder

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

How many male births are affected by Duchenne’s?

A

1 in 5000

17
Q

What are symptoms of Duchenne’s disease?

A

Waddling gait, respiratory, cardio problems

18
Q

What is the cause of Becker’s disease?

A

Genetic, X-linked disorder

19
Q

How many male births are impacted by Becker’s disease?

A

0.1 - 0.8 in 10000

20
Q

What symptoms are related to Becker’s disease?

A

Walking and lifting issues, bigger calfs, weak muscles, later onset

21
Q

What gene causes FSHD?

A

DUX4 gene

22
Q

How many people are affected by FSHD?

A

1 in 8000

23
Q

What are symptoms of FSHD?

A

Facial weakness, trips and falls and scapulae issues

24
Q

What is the cause of IBM?

A

Genetic, can be dominant or recessive or autoimmune

25
Q

How many births are affected by IBM?

A

1-8 in 1 million

26
Q

What are symptoms of IBM?

A

Slow progression, proximal leg and distal arm, mild muscle pain and decline in strength