Muscular Dystrophy

Question 1

What is muscular dystrophy?

Answer 1

inherited condition that interfere with the production of proteins needed to form healthy muscle this leads to loss of muscle and weakness

Question 2

What are the types?

Answer 2

Myotonic dystrophy (most common)
Becker’s
Duchenne’s
Fascioscapulohumeral

Question 3

Tell me about the inheritance of myotonic dystrophy

Answer 3

Autosomal dominant
Trinucleotide expansion on chromosome 19
Prone to anticipation

Question 4

Top to toe examination

Answer 4

Frontal balding, wasting of masters
Gait: foot drop - high stepping gait
Test for winging of scapula
Eyes: cataracts
Mouth: macroglossia
Wasting of SCM
Squeeze my hand, now let go
Percuss thenar eminence
Scrunch your eyes, no relax
Limb weakness: distal > proximal
Chest: pacemaker
Abdo: feeding tubes

Question 5

Differentials of myotonic dystrophy

Answer 5

Proximal myotonic myopathy (milder form of myotonic dystrophy with proximal muscle weakness)
Duchenne’s - die by age 30, proximal
Fascioscapulohumeral
Becker’s - later onset, onto 40s, proximal, less likely to have cardiac involvement

Question 6

How would you make a diagnosis?

Answer 6

Based on CK, EMG, muscle biopsy and dystrophin gene testing

Question 7

What non-muscular features of fascioscapulohumeral dystrophy should you look for?

Answer 7

Sensorineural hearing loss, retinal telangiectasia, scoliosis

Question 8

What are the treatment options?

Answer 8

We cannot reverse the disease.
Treatment is aimed at maintaining muscle strength you have and limiting impact of disease on your daily living for example with the use of walking aids
Rx: physiotherapy e.g. swimming, use steroids and creatine can also be used to help maintain muscle strength, pacemaker, feeding tubes