Muscular Dystrophy

Question 1

What is muscular dystrophy

Answer 1

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

Question 2

Types of muscular dystrophies

Answer 2

Duchennes MD
Becker’s MD
Myotonic.
Facioscalulohumeral.
Oculopharyngeal.
Limb-girdle.
Emery-Dreifuss.

Question 3

Gower’s sign

Answer 3

Indicator of muscular dystrophy (proximal muscle weakness); to stand the child has to ‘walk’ hands up the legs becuase the pelvic muscles are not strong enough

Question 4

Presentation of DMD

Answer 4

Muscle wasting and weakness in early childhood, loose shoulder muscles, weakness around pelvis

Question 5

Age of presentation for DMD

Answer 5

3-5 years old

Question 6

Presentation of Becker’s muscular dystrophy

Answer 6

Dystrophin gene is less severely affected and maintains some of its function, symptoms appear at a later age of around 8-12 years

Question 7

What is myotonic dystrophy

Answer 7

Genetic disorder which presents in adutlhood, with features of progressive muscle weakness, prolonged muscle contractions, cataracts and cardiac arrhythmias

Question 8

Genetics behind muscluar dystrophy

Answer 8

Mutations which reduces the expression of dystrophin protein.
X-linked recessive so majority are males with females being carriers

Question 9

Prognosis of MDs

Answer 9

Often in wheelchairs very early on.
Most do not survive past 30s due to resp complications of dilated cardiomyopathy