Muscular Dystrophy Flashcards
What is the mortality rate of HCM patients?
What is myostatin?
muscle growth inhibitor
What is Rhabodomyolysis?
break down of skeletal muscle
Name 4 specific signs of MH.
1) muscle rigidity/masseter spasm 2) increased CO2 production 3) Rhabodomyolysis 4) hyperthermia
What causes DMD?
Dystrophin (DMD) mutations
Name 2 drugs that can trigger MH.
1) halothane 2) succinylcholine
How does someone get HCM?
inherited- autosomal dominant
The majority of HCM mutations are _____ in structural genes.
missense mutations
HCM is a disease of the _____.
sarcomere
What is the specific mutation in Becker MD?
smaller, in-frame deletions
What is the specific mutation in DMD?
large deletions or frameshifts in DMD gene
What is a clinical sign in Becker MD?
high CK
To increase muscle girth, _____.
recruit myoblasts, increase size and # of myofibrils (add sarcomeres)
To increase muscle length, _____.
recruit myoblasts (add nuclei)
What is the mutation in MH?
RYR1
