R
What is the most common inheritance pattern seen with malignant hyperthermia?
AD
Pathogenic RYR1 variants lead to an increased amount of which ion in the cytoplasm of muscle cells?
Calcium
T/F: Variable expressivity is almost never seen in families with the same RYR1 variant
False
Name 3 specialists that are involved with the care of RYR1-RD
OT, PT, GC, Pulm, GI, Speech-Lang Pathologist, Ortho, etc
Name all competitors of the Triwizard Tournament in Harry Potter
Harry, Cedric, Victor, Fleur
MHS is classically known as a pharmacogenetic condition. What does this mean?
That means that someone has a genetic susceptibility to it (due to a variant in a gene), but they do not have an MH episode/crisis unless they are exposed to triggers.
Which muscle protein is released into the bloodstream during rhabdomyolysis?
myoglobin
How is congenital fiber type disproportion typically inherited?
AR
What type of protein does RYR1 code for?
Calcium channel
What shocking thing happened during the 2022 Oscars?
Will Smith slapped tf out of Chris Rock.
What are some psychosocial considerations when talking about inheritance patterns
Variable penetrance and expressivity
True/False:Dominant RYR1 variants are associated with milder forms of RYR1-related diseases.
True
DAILY TRIPLE: The RyR1 calcium gatekeeper function is controlled by another protein called the _________
dihydropyridine receptor (DHPR)
DAILY DOUBLE!
What is rhabdomyolysis?
This muscle tissue breakdown results in the release of a protein (myoglobin) into the blood. Myoglobin can damage the kidneys. Symptoms include dark, reddish urine, a decreased amount of urine, weakness, and muscle aches.
In Twilight, who does Jacob imprint on?
Bella and Edwards baby
What is the life expectancy of those diagnosed with central core disease?
Normal
Name an important psychosocial consideration for children in school
Exercise and physical activity
504 & IE plans
Mental and social health
In general, people with RYR-1-RD often have static muscle weakness. What does this mean?
the symptoms of muscle weakness are always present
What is one important consideration for management of MH
In the movie, The Avengers: End Game, who does Thor appoint as the new king of Asgard?
Valkyrie
DAILY DOUBLE
Name 2 symptoms of central core disease
Weakness around pelvis/thighs
“Floppy babies”
Delayed, but can walk
Mild facial weakness
Name 2 symptoms of malignant hyperthermia.
• Dangerously high body temperature
• Fast heart rate
• Rapid breathing
• Stiff skeletal muscles throughout the body
• Rhabdomyolysis (muscle breakdown)
• High levels of acid in the blood
• Dark urine
Name 2 RYR1-related conditions.
CCD, MmD, CNM, CFTD, MH
Name two things that can trigger a MH attack.
Anesthetics, physical exertion, extreme heat
Who won Best Album at the 2022 Grammys?
Jon Batiste for "We Are"