MUSCULAR DYSTROPHIES

Question 1

definition of muscular dystrophies

Answer 1

group of autosomal x-linked recessive disorders which cause progressive muscle weakness and wasting

Question 2

what does x-linked autosomal recessive mean

Answer 2

only boys can get the disease and only girls can be carriers

Question 3

Duchenne muscular dystrophy cause

Answer 3

due to a mutation in the dystrophin gene which means that no dystrophin protein is created so creatinine phosphokinase eventually leaves the cell membrane and calcium gets in causing necrosis and atrophy

Question 4

when is duchenne muscular dystrophy typically noticed in a boy

Answer 4

usually when they reach walking age and have trouble standing and have to use their arms (GOWERS SIGN) and have trouble getting upstairs

Question 5

the progression of DMD

Answer 5

causes progressive muscle weakness until it eventually cause respiratory failure due to weakness of the diaphragm and cardiac failure due to dilated cardiomyopathy eventually causing death in someone early 20s and 30s

Question 6

BECKERS MUSCULAR DYSTROPHY

Answer 6

• similar to DMD but the mutated dystrophin gene does produce dystrophin protein it is just an abnormal shape
• so its slightly milder and men can live to their 30s and 40s

Question 7

diagnosis

Answer 7

elevated creatinine phosphokinase and abnormal muscle biopsy