Muscular Dystrophy

Question 1

what is muscular dystrophy

Answer 1

atrophy of muscle due to genetic problem

Question 2

what are the three phases involved in muscular dystrophy

Answer 2

1. atrophy
2. necrosis
3. pseudohypertrophy

Question 3

what are the different types of MD based on

Answer 3

group of muscle
age of onset
rate of progression
mode of inheritance

Question 4

what is the most common form of MD

Answer 4

Duchenne (1-3500 births)

Question 5

Etiology

Answer 5

recessive x-linked trait

mother to son

Question 6

Patho

Answer 6

theres a membrane protein that attaches contractile filaments - when gene is mutated that codes for that protein there is a chance for unattachment

Question 7

what is the gene

Answer 7

gene on short arm of x-chromosome that codes for dystrophin

Question 8

Patho

Answer 8

Mutation - altered protein - poor contractile of protein attachment - fibre necrosis with use - poor repair and regeneration - more necrosis - Ca influx and enzyme release

Question 9

what its the enzyme that is usually released

Answer 9

creatine kinase

Question 10

what replaces the deteriorated muscle

Answer 10

fibro fatty connective tissue

Question 11

what is this called

Answer 11

pseudohypertrophy

as the muscle appears to be growing but it is just fat

Question 12

Manifestations

Answer 12

damage sets in as you use the muscle
present at birth but signs may not appear until 2/3 yrs
progressive muscle weakness
resp and cardiac muscles affected
usually death from resp/card complications

Question 13

Diagnosis

Answer 13

Hx
voluntary movement at birth
serum: Creatine kinase (increases with striated muscle)
Biopsy: adipose tissue in muscle
12 weeks gestation you can do prenatal screening

Question 14

Treatment

Answer 14

no cure
supportive
- braces
- breathing
- exercises 
- surgery to support joints
increase comfort and function