Muscular Dystrophies Flashcards
1
Q
3 Main muscular dystrophies?
A
Duchennes’ (x linked recessive
Beckers (x linked recessive)
Myotonic (autosomal dominant)
2
Q
What are the causes of muscular dystrophies?
A
Genetic
3
Q
What is the pathology of muscular dystrophies?
A
Progressive degeneration and weakness of muscle
4
Q
When and how do these conditions present?
A
Early childhood
- Clumsiness
- Difficulty walking
- Respiratory failure
- Scoliosis
5
Q
What signs are there?
A
Weakness of the face and upper limbs
Foot drop
Winging of the scapula
6
Q
Tests for muscular dystrophy?
A
Serum creatinine kinase elevated
- Muscle enzyme released when muscle breaks down
7
Q
Treatment?
A
No treatment besides symptomatic
- Require ventilation
