Myopathies

Question 1

What is this describing?

Primary disorder of muscle with gradual onset symmetrical weakness.

Answer 1

Myopathy

Question 2

What is this a likely presentation of?
Gradual onset of symmetrical proximal weakness, preserved tendon reflexes, no paraesthesia or bladder problems, no fasciculations.

Answer 2

Myopathy

Question 3

How is suspected myopathy investigated?

Answer 3

1. ESR, CK, AST, LDH may be raised
2. EMG
3. Muscle biopsy and genetic testing

Question 4

What is this describing?

Progressive muscle degeneration and weakness of specific muscle groups, abnormality in the muscle membrane.

Answer 4

Muscular dystrophy

Question 5

What is this a presentation of?

4 year old boy, clumsy walking, difficulty standing, respiratory failure, CK >40.

Answer 5

Duchenne’s muscular dystrophy

Question 6

What is the inheritance pattern of Duchenne’s muscular dystrophy?

Answer 6

X-linked recessive

Question 7

What is the commonest progressive myopathy and what is its pattern of inheritance?

Answer 7

1. Myotonic dystrophy

2. Autosomal dominant

Question 8

What is this a presentation of?

20-30 year old, distal weakness (hand/foot drop), weak sternocleidomastoid, myotonia.

Answer 8

Myotonic dystrophy