Muscle disorders

Question 1

What five body parts can be impacted by myopathies?

Answer 1

Muscles
Respiratory
The heart
Bowel and bladder
Kidney

Question 2

What is proximal/pelvic weakness?

Answer 2

Issues raising the arms, gait issues

Question 3

What can distal weakness lead to?

Answer 3

Trips and falls and hand weakness

Question 4

What are some symptoms of facial weakness?

Answer 4

Sleep with eyes open and issues pouting

Question 5

What are some symptoms of bulbar weakness?

Answer 5

Chewing and swallowing issues, aspiration and weak cough

Question 6

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

Answer 6

Muscle being replaced by fat

Question 7

What is the issue with raised creatine kinase?

Answer 7

Can clog the kidneys

Question 8

What are some examples of acquired processes for developing myopathies?

Answer 8

Autoimmune, inflammatory, toxins, endocrine

Question 9

What gene leads to myotonic dystrophy?

Answer 9

DMPK gene

Question 10

What hereditary process is myotonic dystrophy from?

Answer 10

Autosomal dominant

Question 11

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

Answer 11

Over 50 times

Question 12

What is a normal number of CTG repeats?

Answer 12

5-37

Question 13

What are some symptoms of myotonic dystrophy?

Answer 13

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

Question 14

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

Answer 14

Increase

Question 15

What is the main cause of Duchenne’s disease?

Answer 15

Genetic, X-linked disorder

Question 16

How many male births are affected by Duchenne’s?

Answer 16

1 in 5000

Question 17

What are symptoms of Duchenne’s disease?

Answer 17

Waddling gait, respiratory, cardio problems

Question 18

What is the cause of Becker’s disease?

Answer 18

Genetic, X-linked disorder

Question 19

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

Answer 19

0.1 - 0.8 in 10000

Question 20

What symptoms are related to Becker’s disease?

Answer 20

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

Question 21

What gene causes FSHD?

Answer 21

DUX4 gene

Question 22

How many people are affected by FSHD?

Answer 22

1 in 8000

Question 23

What are symptoms of FSHD?

Answer 23

Facial weakness, trips and falls and scapulae issues

Question 24

What is the cause of IBM?

Answer 24

Genetic, can be dominant or recessive or autoimmune

Question 25

How many births are affected by IBM?

Answer 25

1-8 in 1 million

Question 26

What are symptoms of IBM?

Answer 26

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