Muscular dystrophy vingette Flashcards
1
Q
Clinical signs of MH
A
- muscle rigidity (masseter spasm)
- increased CO2 production
- rhabodomyolysis
- hyperthermia
2
Q
test to dx MH
A
halothane/caffeine test on muscle biopsy
3
Q
immediate management of MH and dosage
A
Dantrolene 2.5 mg/kg
4
Q
DMD inheritance pattern
A
X-linked
5
Q
DMD sx
A
- toe-walking
- Gower’s sign
- calf pseudohypertrophy
- high creatnine kinase (1000s)
- cardiomyopathy 100% by 18 years
6
Q
DMD gene
A
dystrophin
7
Q
DMD mutations
A
big deletions, frameshift
8
Q
Becker MD
A
- smaller, in frame deletions
- mild muscle complaints (some asx)
- High CK
- later onset cardiomyopathy
9
Q
Tx of DMD
A
- supportive
- braces
- surgical tendon releases
- pulm tx (CPAP)
- CORTICOSTERIODS*
- ambulatory assist devices
- multidisciplinary care
10
Q
HCM is a disease of the
A
sarcomere
11
Q
HCM sx in majority iof patients
A
most are asx but some have dyspnea, angina an dsyncope but some experience sudden cardiac death and some die suddenly
