Muscular dystrophy

Question 1

What is muscular dystrophy?

Answer 1

An umbrella term for genetic conditions that cause gradual weakening and wasting of muscles

Question 2

What are the main types of muscular dystrophy?

Answer 2

• Duchennes muscular dystrophy
• Beckers muscular dystrophy
• Myotonic dystrophy

Question 3

What type of inheritance does Duchennes muscular dystrophy have?

Answer 3

X-linked recessive

Question 4

What is Duchenne’s caused by?

Answer 4

A defective gene for dystrophin on the X-chromosome

Question 5

What is dystrophin?

Answer 5

A protein that helps hold muscles together at the cellular level.

Question 6

What are the main features of Duchenne’s muscular dystophy?

Answer 6

• progressive proximal muscle weakness from 5 years
• calf pseudohypertrophy
• myotonia- sustained muscle contraction
• Gower’s sign

Question 7

What is gowers sign?

Answer 7

Child uses arms to stand up from a squatted position

Question 8

What do 30% of people with muscular dystrophy have?

Answer 8

Intellectual impairment

Question 9

When do boys with duchenne’s tend to first present?

Answer 9

3-5 years

Question 10

What do boys with Duchenne’s first present with?

Answer 10

Weakness in the muscles around their pelvis

Question 11

What is the main investigation for Duchenne’s?

Answer 11

Creatinine Kinase

Question 12

What level will the creatinine kinase be in Duchenne’s?

Answer 12

The creatinine kinase will be excessively raised

Question 13

What is the definitive diagnosis of Duchenne’s?

Answer 13

Genetic testing

Question 14

Is there a cure for Duchenne’s?

Answer 14

No

Supportive management

Question 15

What can be used to slow the progression of muscle weakness?

Answer 15

Oral steroids

Question 16

What can be given to slightly improve muscle strength?

Answer 16

Creatinine supplementation

Question 17

By what age are boys with Duchenne’s usually unable to walk?

Answer 17

12 years old

Question 18

What is the life expectancy for someone with Duchenne’s?

Answer 18

25 – 35 years

Question 19

What cardiac condition is Duchenne’s associated with?

Answer 19

Dilated cardiomyopathy

Question 20

What is Becker’s muscular dystrophy?

Answer 20

Very similar to Duchennes, however the dystrophin gene is less severely affected and maintains some of its function.

Question 21

What is the problem with Becker’s muscular dystrophy?

Answer 21

The clinical course is less predictable

Question 22

When do symptoms of Becker’s muscular dystrophy appear?

Answer 22

Around 8 – 12 years.

Question 23

What is the management of Becker’s muscular dystrophy?

Answer 23

Same as Duchenne’s Muscular Dystrophy