Muscualr Dystrophy Flashcards
1
Q
What is muscular dystrophy
A
A group of genetic diseases with progressive degeneration + weakness of specific muscle groups
2
Q
2 types of muscular dystrophy
A
- Duchenne’s muscular dystrophy
- Becker’s muscular dystrophy
3
Q
Describe Duchenne’s muscular dystrophy
A
- Commonest muscular dystrophy
- X-linked mutation
- More common in males
- Due to faulty or absent dystrophin
- Present ~4yrs with clumsy walking => difficulty standing => Resp. failure
- Pseudohypertrophy is seen, especially in calves
- Most get scoliosis
4
Q
Describe Becker’s muscular dystrophy
A
- Similar to Duchenne’s but milder with a later presenting age and better prognosis
- Dystrophin is partially functioning
5
Q
When do surfers of Duchenne’s and Becker’s need a wheelchair
A
- Duchenne = 12 yrs
- Becker = 30 yrs
6
Q
Presentation of Duchenne’s
A
- Boys
- 1-6yrs
- Waddling clumsy gait
- On standing uses hands to climb legs
- Calf pseudohypertrophy
7
Q
Complications of Duchenne’s
A
- Resp. failure + infection
- Cardiomyopathy
- Tendon contractures
- Scoliosis
- Osteoporosis
8
Q
Investigation for Duchenne’s
A
- Creatinine kinase is raised (measure in all boys not walking by 18mths)
- Muscle biopsy
9
Q
What does a muscle biopsy of Duchenne’s show
A
Abnormal fibres surrounded by fat and fibrous tissue
10
Q
Rx for Duchenne’s
A
- Prednisolone slows decline in muscle strength + function short term
- Gene therapy may be an option
- Knee/ankle/foot orthoses to preserve walking
11
Q
Outcome of Duchenne’s
A
Median age of death is now 31yrs
