Muscle Dystrophy Vignette

Question 1

The majority of muscular dystrophy disorders arise from _________.

Answer 1

missense mutations in structural genes

Question 2

Symptoms of hypertrophic cardiomyopathy are _______.

Answer 2

dyspnea, angina, syncope, and rarely sudden cardiac death

Question 3

Sometimes HCM patients present with _____.

Answer 3

arrythmia and murmur

Question 4

Define paresis.

Answer 4

A condition of muscular weakness caused by nerve damage or disease; partial paralysis.

Question 5

_______ typically have myostatin mutations that result in huge muscle growth.

Answer 5

Belgian Blue Cattle

Question 6

______ is a disorder in the RYR1 (ryanodine receptor) gene.

Answer 6

Malignant hyperthermia

Question 7

The two most frequent anesthetics that induce malignant hyperthermia are ______.

Answer 7

halothane and succinylcholine

Question 8

Malignant hyperthermia mutations cause the _____ channels to stay open, inducing repetitive contractions and the production of heat.

Answer 8

ryanodine receptors

Question 9

Specific symptoms of malignant hyperthermia are _____.

Answer 9

muscle rigidity (specifically in the masseter); increased CO2 production; rhabdomyolysis; and hyerthermia

Question 10

________ increase the length of muscles.

Answer 10

Myoblasts

Question 11

Becker muscular dystrophy differs from Duchenne by _______.

Answer 11

frameshift deletion that lead to smaller effects