Week 3 - Muscular Dystrophy

Question 1

what is muscular dystrophy?

Answer 1

group of rare and usually X linked recessive hereditary disorders resulting in progressive muscle weakness and wasting

Question 2

who does muscular dystrophy affect?

Answer 2

only boys (X linked)

Question 3

what is Duchenne Muscular Dystrophe?

Answer 3

defect in the dystrophin gene involved in calcium transport which results in muscle weakness

Question 4

when does Duchenne Muscular Dystrophe become aparent?

Answer 4

often not until the boy starts to walk with difficulty standing and going up stairs

Question 5

what are the clinical features of duchenne muscular dystrophe at age 10?

Answer 5

difficulty standing and going up stairs

progressive muscle weakness meaning the boy cannot walk by around 10 yrs

Question 6

what are the features of duchenne muscular dystrophe at age 20?

Answer 6

progressive cardiac and resp failure

Question 7

typical life expectancy of duchenne muscular dystrophy?

Answer 7

early 20s

Question 8

how is duchenne muscular dystrophy diagnosed?

Answer 8

raised serum creatinine phosphokinase

abnormalities on muscle biopsy

Question 9

how can mobility be prolonged in muscular dystrophy?

Answer 9

physiotherapy
splintage and deformity correction
spinal surgery for scoliosis

Question 10

what is Becker’s muscular dystrophe?

Answer 10

similar to duchennes but milder

boys can walk in their teens and often survive into 30s or 40s