September is CMT Awareness Month: New Quiz for 2020!

How much do you know about CMT? Take the quiz to find out and let us know how you did! Answers at the end. Good luck! For more information on CMT, CMTA or CMTA STAR research, please visit: http://www.cmtausa.org

*Denotes explanation at the bottom of page.

1) CMT is a genetically heterogeneous disorder. What does heterogeneous mean?

a. Like the process of breaking down fat molecules in milk, CMT can be broken down into smaller particles through a high-pressure procedure.

b. Mutations in different genes can produce the same clinical symptoms.

c. A term used to explain the genius-level IQ of most people with CMT.

d. Belonging to the same family,

2) When researchers study the natural history of CMT, what exactly are they doing?

a. They are trying to figure out which components of CMT are artificial.

b. It’s all old news.

c. They are studying the progression of CMT over time.

d. They are trying to determine the origins of CMT and when it all began.

3) People with CMT often use AFOs. What does AFO stand for?

a. Ankle Foot Orthosis

b. About-Face-Onward

c. Air Force One

d. Area Financing Officer

*4) What is HNPP?

a. HNPP stands for Hereditary Neuropathy with Liability to Pressure Palsies

b. HNPP is a sub-type of CMT.

c. HNPP is most often caused by a deletion of the PMP22 gene.

d. All of the above.

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5) What is Foot Drop?

a. An abrupt 1-foot fall or slope

b. Inability to lift the foot at the ankle due to weakness or paralysis of the anterior (front) muscles of the lower leg.

c. A secret play in football when the quarterback drops the ball 1 foot from the goal line.

d. The name of a used shoe company.

6) To date, how many genes have been found to cause CMT?

a. 10

b. Over 100

c. 212

d. We cannot count that high.

7) If a child inherits CMT from a parent, will it be the same type of CMT?

a. Yes. The type of CMT does not change between generations.

b. No. CMT is variable and changes sub-types from one generation to the next.

c. Children do not inherit CMT from parents.

d. I do not know, but the child will love Country Music Television!

*8) Is CMT like Muscular Dystrophy (MD) or Multiple Sclerosis (MS)?

a. Yes, because CMT is under the Muscular Dystrophy umbrella. 

b. No. They are completely different and separate diseases.

c. No one really knows.

d. Yes, because MD, MS and CMT are just different acronyms for the same disease.

9) Anyone in the world can be born with CMT because everyone is susceptible to random or de novo gene mutations.

a. Only people in the US are susceptible to new, random mutations.

b. This statement is false.

c. I have no idea if this is true or false.

d. True

*10) If two people who have an autosomal dominant (“Autosomal” means that the gene in question is located on one of the numbered, or non-sex, chromosomes. “Dominant” means that a single copy of the disease-associated mutation is enough to cause the disease) form of CMT (like CMT 1A) have children, what is the chance that their children will inherit CMT?

a. 0%

b. 25%

c. 75%

d. 100%

*11) What is Dominant Intermediate Charcot-Marie-Tooth Disease (DI-CMT)

a. A rare, dominantly inherited type of CMT

b. Just an expression used to liken the inheritance of CMT to a roll of the dice.

c. Does not exist. Just a made up name to throw you off the right answer.

d. A type of CMT that affects people with Type A personalities.

12) Your CMT genetic test comes back negative. What does this mean?

a. No one really knows.

b. You still may have CMT. There isn’t any one lab testing for all known mutations in any one test. Moreover, not all genetic mutations underlying CMT have been found or can be detected with a DNA test.

c. A negative result rules out CMT since all sub-types of CMT are easily recognizable.

d. Retake the test 5-6 more times to be sure of the results.

13) What does the CMTA’s research initiative, STAR, stand for?

a. Strategy to Accelerate Research

b. Strategy to Advance Rats

c. Situation, Task, Action Result

d. Sewage Telecommunication Access By Robot

14) Although there is no medicinal cure for CMT,  we can treat the symptoms of CMT with:

a. Exercise, physical and occupational therapy, healthy diet

b. Braces and other orthopedic devices

c. Surgery can help prevent or reverse foot and joint deformities

d. All the above

15) Since the launch of STAR in 2008, how much money has the CMTA spent on treatment-driven CMT research?

a. 1 million

b. 5 Million

c. 10 Million

d. 16 Million

Answers

  1. b
  2. c
  3. a
  4. d
  5. b
    • The ankle dorsiflexors, the muscles that lift up the foot and ankle, are frequently involved in foot drop. When the Tibialis Anterior muscle weakens, the foot begins to drop down. This is usually a gradual process, occurring over months or years.
  6. b
  7. a
  8. b
    • Charcot-Marie-Tooth (CMT), Multiple Sclerosis (MS) and Muscular Dystrophy (MD) are three completely separate and distinct diseases. Remember that our neuromuscular system really starts at the brain, which is the master computer, and sends signals to the motor (muscles) via the spinal cord (an intermediate connecting cable), which hooks up to the peripheral nerves (the connecting lines between brain and muscle).
    • Muscular Dystrophy is a disease of the muscle itself, which causes weakness of varying degrees. There are many forms of MD. Sometimes the heart is involved because it is a muscle too. The lungs can also be affected because the breathing muscles are weak (similar to CMT, although in CMT it is because the phrenic nerves are affected, which in turn weakens the diaphragm, the main breathing muscle).
    • CMT is primarily a disease of the peripheral nerves (the connecting lines between brain and muscle). CMT causes weakness and impaired sensory perception because the signal can’t get to and from the brain to muscle and skin, among other things. The muscles shrink because they aren’t getting the proper signals, but the muscles themselves are not directly diseased per se.
    • Multiple Sclerosis is a disease of the brain and spinal cord. It can affect both movement and sensory perception and sometimes thinking processes.
  9. d
    • There is a 75% chance that they will have a child that is affected.  Broken down, there is a 50% chance that the child will get the duplication from one or the other parent, a 25% chance they will get it from both parents (i.e. for CMT1A they will then have 4 copies of the PMP22 gene), and a 25% chance they will not inherit CMT and have the normal copy number of PMP22.  We have seen a few cases of kids that have inherited 4 copies of the PMP22 gene and they seem to be more significantly affected than their parents, but we have not looked at this longitudinally because it is rare. (Answered by Shawna Feely, CGC)
  10. c
  11. a
    • CMT-DI takes its name from the nerve conduction velocity (NCV), which is considered intermediate. The nerve biopsies from patients with DI-CMT have shown both axonal degeneration as well as demyelination. Dominant mutations in the genes DNM2MPZ, and YARS are associated with DI-CMT types B, D, and C, respectively.

12. b

13. a

14. d

15. d

Give More Out Of Life!

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Over the past 20 years, I’ve gotten to know many people from all all over the world who are interlinked by one common denominator – CMT or Charcot-Marie-Tooth Disease. Despite cultural, social and economic differences, they share a common story, one which includes nerve degeneration, weakened leg/arm muscles, drop foot, claw toes, hand contractures, tremor, leg braces, foot surgeries, chronic pain and disability, just to name a few.

Some experience life-altering fatigue, easily broken bones, lack of proprioception due to loss of feeling, while others no longer have control of their hands or fingers and gasp for breath due to diaphramatic weakness. Some have even died due to complications from CMT.

Last week, I was speaking to a longtime friend, whose now 55-year-old son is bed-bound, unable to move, practically paralyzed from head to toe. His CMT, type unknown, has progressed rapidly, leaving this fiercely independent man completely reliant on the help of others.

His mom has  been an extremely generous CMTA supporter for the past 30 years, and a supporter of the Cycle (and Walk!) 4 CMT event. When I heard just how much her son’s CMT had advanced, I felt angry. “I’m so done with CMT and its ravaging effects on my friends…SO OVER IT! I hate this stupid disease. It’s not only maddening, it’s depressing.”

 I felt as though I had failed this family……and my own.

If only I could have done more to help her son….and so many others.  I told her as much: “I wish I could have done more for him, for your family. It’s heartbreaking to think of him today, lying in that bed, unable to move. It’s disheartening to think of all my friends whose nerves are slowly degenerating as we speak. ” 

Action empowers. Inaction disempowers.

If there is one action I can take, it’s to continue to support CMT treatment-driven research by fundraising, donating and ask others to do the same. 

I  pulled out a graphic the CMTA recently published, showing  our current projects under STAR (Strategy to Accelerate Research). You can find this chart on the CMTA website: https://www.cmtausa.org/living-with-cmt/find-resources/cmta-reports/download-info/the-2019-cmta-annual-report/

Take a look:

 

CMTA Drug Pipeline

This chart shows the depth and breadth of CMTA research projects.   11 years ago, this was a blank page. Now we have 50 projects and over 30 partners, all funded 100% by individuals who believe in the power of our scientific endeavors. 

Charity Navigator, America’s largest & most-utilized charity evaluator, also awarded the CMTA its highest rating last year (4-star), which fewer than 1% of charities receive. Now, that gives every one of us bragging rights!

My friend reminded me, “The CMTA is doing miraculous life-changing work and if it does not help my son, I know it will help others. Together, with our CMT supporters, we will make an indelible mark in this world. We already have!”

She’s right. With her words spurring me on, and with renewed energy, I decided to transform my anger into passion and drive. 

So, yes, I’m asking again this year for your help because I want my son to have the best life possible. I want my friends to remain healthy and able-bodied. I  want our future generations to be free of CMT.

So, instead of cancelling the Cycle (and Walk!) 4 CMT, we’ve decided to host a VIRTUAL event. Anybody, anywhere can participate. www.cycle4cmt.com

If you don’t want to get your walking shoes on or your bike out, you can sponsor a participant or a team…….like Team Yohan! Will you sponsor Team Yohan and help us advance CMTA research? If so, click here: https://cmta.akaraisin.com/ui/cycle/team/300635

And for the first time ever, Yohan is actually biking, thanks to a lot of practice, commitment to our cause and his e-bike! The plan? They are  doing a classic ride across the Golden Gate Bridge and around the Marin Headlands on Saturday, August 29. Meanwhile, I’ll be in Crissy fields wearing a Shark Costume (Shark-O-Marie-Tooth) spreading CMT awareness and scaring little kids (kidding).

Charcot-Marie-Tooth – pronounced Shark-O-Marie-Tooth

 

We also have a $50k match running in August, so your contributions will be doubled!!

 

That’s a lot of good news in one post!! Join us. Go virtual. Donate and leave a legacy of CURING CMT!

Don’t forget…….Keep on trying; we will not fail!