Muscular Dystrophy

Question 1

What is this describing?
Muscle weakness results from abnormalities in muscle fibre structure, genetic conditions inherited in an x-linked recessive manner, so affect only boys.

Answer 1

Muscular dystrophy

Question 2

What is the difference in pathophysiology of Duchenne’s and Becker’s muscular dystrophy?

Answer 2

Genetic defect impairs formation of dystrophin which usually strengthens muscle cells cytoskeleton.

1. Duchenne - metal no dystrophin produced
2. Becker - dystrophin production is faulty

Question 3

What is this a presentation of?
2 to 3 years old. Delayed motor milestones of lower limbs (waddling gait, Gower’s sign). Pseudohypertrophy of calf muscles, respiratory failure from weakness, cardiomyopathy from late teens, progressive scoliosis.

Answer 3

Duchenne’s muscular dystrophy

Question 4

What is this a presentation of?
Teenager. Proximal weakness (hard to climb stairs and run). Pseudohypertrophy of calf muscles, minor respiratory failure, cardiomyopathy early sign, minor scoliosis.

Answer 4

Becker’s muscular dystrophy

Question 5

How is muscular dystrophy diagnosed?

Answer 5

1. Raised CK
2. EMG
3. Confirm on genetic testing

Question 6

What is the management for muscular dystrophy?

Answer 6

1. supportive
2. physiotherapy
3. treat respiratory complications, ECG, Echo monitoring

Question 7

What is the prognosis of muscular dystrophy?

Answer 7

1. Duchenne’s - require wheelchair by early teens, die from respiratory complications in Mid 20s.
2. Becker’s - walk with aids into 20s, die from cardiac complications in 40s.