It’s really hard to describe what CMT is to people. After about 2 minutes of trying to explain peripheral nerves, neuromuscular disease, genetic patterns and why your talking about a Tooth, eyes glaze over, yawns escape and the subject changes to other topics like….the weather.
Maybe a picture explains the effects of having CMT better than big, long scientific words. I think in pictures, so I thought I’d give it a try. Despite my inability to create stunning graphic images, I’m showing you what I came up with. If you find this graphic to be useful, please feel free to share!! No authorization needed!
1) Charcot-Marie-Tooth Disease (CMT) is also known as:
a. Inflammatory Nerve and Muscle Syndrome
b. Hereditary Motor and Sensory Neuropathy
c. Funky Foot Disorder
d. Chronic Tendinopathy with fatigue
2) How many different inheritance patterns does CMT have?
a. 1
b. 2
c. 3
d. Too many to count.
3) Can CMT skip generations?
a.Yes
b. No
4) Can CMT appear in a child if the parents’ DNA is normal?
a.Yes
b. No
5). Is CMT a type of Muscular Dystrophy?
a. Yes
b. No
6). What type of pain might you experience with CMT?
a. Neuropathic or nerve pain
b. Muscle pain
c. Joint pain
d. All of the above.
7). CMT is a heterogeneous disease. What does heterogeneous mean?
a. CMT is an inherited disease.
b. CMT is usually related to having a very high IQ.
c. CMT is caused by many different gene mutations.
d. CMT affects both men and women equally.
8). Can a person have 2 types of CMT?
a. Yes
b. No
9). Is HNPP a type of CMT?
a. Yes
b. No
10). CMT has no cure. But, non-medicinal treatments include:
a. Physical and Occupational therapies
b. AFOs or leg braces
c. Orthopedic surgery
d. All of the above
ANSWERS
#1 – b
Hereditary Motor and Sensory Neuropathy (HMSN) Hereditary means that the disease tends to run in families and causes problems with the sensory and motor nerves, the nerves that run from the arms and legs to the spinal cord and brain.
#2 – c : 3
The 3 types of inheritance are Autosomal Dominant, Autosomal Recessive and X-Linked. Autosomal Dominant – the faulty gene is located on one of the numbered, or non-sex, chromosomes. Humans typically have 46 chromosomes or 23 pairs of chromosomes. The first 22 chromosomal pairs are called autosomes. Autosomal dominant conditions affect men and women equally, and both men and women have a 50% chance in each pregnancy of passing on the condition.
If a child inherits the mutation, that child will have CMT and will have a 50% chance of passing it on again. If the child does not inherit the change, that child will not have CMT, will not have symptoms, and will not be able to pass on the change that is in the family in the future.
Autosomal Recessive – 2 copies of the mutation are needed to cause the disease, meaning neither copy of the gene is working properly. In almost all cases, the changes in the gene were inherited from the parents. Each parent has one copy of the gene with a change, but because that person has one copy of the gene without a change, that person does not have symptoms of CMT and is called a “carrier.” Only people with autosomal recessive forms of CMT in the family can be considered carriers. Both males and females are affected equally with autosomal recessive conditions, and there is an equal chance of passing it on to a child, no matter the sex. If two people are carriers of an autosomal recessive form of CMT, there is a 1 in 4, or 25%, chance of both passing down the copies of the genes that do not work to a child in each pregnancy. It is only the child that inherits two copies of the gene that have mutations that will have CMT. For a person who has a recessive type of CMT, that person will pass on one of the copies of the gene with the mutation to all of that person’s children. However, only if that person’s partner is also a carrier of a mutation in this gene will it be possible to have a child that is affected with the condition. If the partner is not a carrier, it is not possible to have children affected with a recessive form of CMT, but all children will be carriers.
X-Linked – the last pair of chromosomes is called sex chromosomes. the Y and the X. For a person with an X-linked form of CMT, the inheritance is different depending on the sex of the person affected. X-linked forms of CMT (such as CMT1X) are caused by a mutation in a gene carried on the X chromosome. Recall that females have two X chromosome and males have an X and a Y chromosome. If a female has a mutation in an X chromosome gene, she will have a 50% chance of passing on that mutation to each of her children, no matter the sex of the child. However, if a male has a mutation in an X chromosome gene, the sex of the child does make a difference. As males pass on their X chromosome to their daughters and their Y chromosome to their sons, all of the daughters of a male with an X-linked mutation will inherit the condition, and none of the sons will. Source: https://www.rarediseasesnetwork.org/cms/inc/Charcot-Marie-Tooth/What-is-CMT
#3. No.
CMT does not skip generations.
#4. Yes.
Sometimes the parents’ DNA is normal and the CMT variation happens when the child’s DNA is forming. This is called a new or spontaneous mutation.
#5. No No, CMT is not a type of muscular dystrophy.
CMT is primarily a disease of the peripheral nerves. 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 atrophy because they aren’t getting the proper signals, but the muscles themselves are not directly diseased, per se. Muscular dystrophy is a group of diseases 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, our main breathing muscle). So, in summary, CMT is a genetic neuropathy which is of course a neuromuscular disorder (The euro part of the word comes from nerve). When they were expanding the MDA early one, they included 41 of the neuromuscular diseases, including Muscular Dystrophy, CMT, Spinal Muscular Atrophy, Myasthenia Gravis and so on. The thing to remember is that when nerves stop sending the correct signals, muscles atrophy and you wind up with similar problems to those experienced by someone with a “muscle disease” like MD.
# 6. D – All the above.
#7. C
Over 100 different genes have been identified as causing CMT (and counting).
#8. Yes.
The statistic is that about 1.5 percent of people will have two types of CMT. Not all variants are disease-causing. In many cases, the results of the genetic tests are often very difficult to decipher and seeing a trained CMT expert who also performs a physical exam is key for an accurate diagnosis.Please see a licensed genetic counselor (www.nsgc.org) to better understand your genetic testing results.
#9. Yes
Yes, HNPP is a form of CMT. There are three different types of CMT associated with PMP22. People with a duplication of PMP22 have CMT1A, people with a deletion of PMP22 have HNPP, and people with a missense mutation (single letter mutation changing an amino acid) in the PMP22 gene have CMT1E. All are hereditary forms of peripheral neuropathy, and as CMT is the umbrella name for all forms of hereditary peripheral neuropathy, that would include HNPP. (Written by genetic counselor, Shawna Feely)
#10. D.
CMT has no cure and treatments are supportive. Foot orthotics and braces (ankle-foot-orthotics, AFOs) are commonly prescribed to help with foot deformity and foot drop. Surgery to correct foot alignment or to lengthen or transfer tendons is often performed. Physical and occupational therapies are instrumental in providing long lasting quality of life. There is no cure for CMT nor any drug or vitamin known at this time to make CMT better.
There is always country music tunes playing in the background at my mom’s house in Vermont. This particular rainy summer day, we spent the afternoon dancing barefoot to Johnny Cash melodies playing on the TV in the living room. Resting our tootsies for a brief moment, my mom casually asked, “Why’s Yohan always on his tippy toes?” She continued, “I always had such a problem getting you shoes because of your high instep, Elizabeth, but this is a little different. His toes are curled and his arches are so high.” I’d never noticed anything wrong with my son’s physical traits; in my eyes, every part of him was perfection. I gave a slight eye roll and responded defensively, “His feet are fine. Lots of kids walk on their toes. I’m sure it he’ll grow out of it.”
But he didn’t. His feet just got funkier as time passed.
Little by little, the subtle signs became more pronounced: tripping, toe walking, tight Achilles tendons, fatigue, hand weakness, loss of sensation and balance problems. One day, his PT tapped his knees with a hammer over and over again. His legs did not jerk. In fact, there was no movement whatsoever, meaning he had no deep knee reflexes. She encouraged me to bring him to a pediatric neurologist for further evaluation.
The neurologist mumbled something about mild Cerebral Palsy (CP), a possible genetic disease and sent us on our way with prescriptions for an MRI of the brain and blood tests. We were to make a follow up appointment in 6-8 weeks.
8 long weeks and 1,000 Google searches later, Yohan was officially diagnosed with CMT or Charcot-Marie-Tooth (shark-o-marie-tooth) disease, named after the 3 doctors who first discovered it. His condition had nothing at all to do with sharks, teeth or Country Music Television. CMT no longer held the innocent and careless connotation it once had. From that point on, CMT became disease to stop, treat, cure before it could destabilize Yohan’s life further.
CMT is a heritable neurological disease affecting the peripheral nerves, the long nerves extending from the spinal cord to the hands and feet. Another name for the disease is hereditary sensory and motor neuropathy, meaning it runs in families and affects the sensory and motor nerves. As the disease progresses, the nerves slowly lose their ability to transmit messages to the extremities, causing the muscles of the arms and legs to atrophy. For a person to be affected with CMT, that person must have one (or two, depending on the type of CMT) disease-causing mutation in one of the genes that causes CMT.
Both my husband and I were tested for CMT and our results were, without a doubt, negative. Neither of us had CMT and CMT does not skip generations. So, how was this possible? We quickly learned that CMT can also result from a new or spontaneous mutation, otherwise known as “de novo.”
Common symptoms of CMT include:
High arches, curled toes, inability to lift the foot at the ankle, numbness or burning of the feet and/or hands, muscle wasting, poor balance, loss of hand dexterity and debilitating fatigue.
Additional symptoms may include chronic pain, sleep apnea, curvature of the spine, vocal cord paralysis, hearing loss, breathing and/or swallowing difficulties.
CMT is currently incurable, but not usually fatal, though it can be severely disabling. And, although there is no drug treatment for CMT, physical and occupational therapy, moderate activity, leg braces and even orthopedic surgery can be helpful.
Thankfully, I found the Charcot-Marie-Tooth Association (CMTA) soon after my son’s CMT diagnosis 19 years ago. The CMTA not only provides resources for people with CMT, but is aggressively pursuing treatments and cures for all types of CMT (over 100 genes have been identified as causing CMT) with its treatment-driven research initiative, STAR (Strategy to Accelerate Research). The ultimate goal of STAR is to slow, stop, reverse the progression of CMT. With the advent of gene therapies, a cure for CMT is within reach and closer than ever before.
Yohan is now 26 and has just graduated with his Masters in Organizational Psychology. With chronic fatigue, pain, scoliosis and extensive foot surgeries, Yohan has a positive outlook and a great sense of humor. His involvement with the CMTA (helping at Patient/Family conferences, answering CMTA member questions, speaking at national branch meetings and leading youth groups) has been most helpful in embracing the disease, creating resilience and reinforcing strength of character.
Cycle 4 CMT event – August, 2019
He knows there are a lot of very smart people working hard to bring treatments to the forefront and armed with this knowledge, he lives each day to the fullest, focused on the here and now.
This is a family disease and as such, many generations of families across the US are involved with some aspect of the organization –raising critical dollars for research, acting as reliable and knowledgeable resources for the community and helping others come to terms with the disease.
Together, we are out to change the world, one footstep at a time – http://www.cmtausa.org
Won’t you join us? Never is too late to get involved!
What do Sharks, Teeth and Country Music Have in Common?
By Elizabeth Ouellette
My mom was the first to point it out. “What’s going on with his feet?” She asked one day when my son, Yohan, was 6. “I always had such a problem getting you shoes because of your high instep, but Yohan’s toes are curled, and he walks on his tippy toes.” I’d never noticed anything wrong with my son’s physical appearance, and her comment took me off guard. I gave a slight eye roll and responded defensively, “His feet are fine. Lots of kids walk on their tippy toes. I’m sure it he’ll grow out of it.”
But he didn’t.
Little by little, the subtle signs became more pronounced: tripping, toe walking, tight Achilles tendons, fatigue, hand weakness, loss of sensation and balance problems. One day, out of curiosity, his PT tapped his knees again and again and again. No deep knee reflexes were found. She encouraged me to bring him to a pediatric neurologist for further evaluation.
The neurologist mumbled something about mild Cerebral Palsy (CP), a possible genetic disease and sent us on our way with prescriptions for an MRI of the brain and blood tests. We were to make a follow up appointment in 6-8 weeks.
8 long weeks and 1,000 Google searches later, Yohan was officially diagnosed with CMT or Charcot-Marie-Tooth (shark-o-marie-tooth) disease, named after the 3 doctors who first discovered it. His condition had nothing at all to do with sharks, teeth or Country Music Television.
CMT is a heritable neurological disease affecting the peripheral nerves, the long nerves extending from the spinal cord to the hands and feet. Another name for the disease is hereditary sensory and motor neuropathy, meaning it runs in families and affects the sensory and motor nerves. As the disease progresses, the nerves slowly lose their ability to transmit messages to the extremities, causing the muscles of the arms and legs to atrophy. For a person to be affected with CMT, that person must have one (or two, depending on the type of CMT) disease-causing mutation in one of the genes that causes CMT.
Both my husband and I were tested for CMT and our results were, without a doubt, negative. Neither of us had CMT and CMT does not skip generations. So, how was this possible? We quickly learned that CMT can also result from a new or spontaneous mutation, otherwise known as “de novo.”
Common symptoms of CMT include:
High arches, curled toes, inability to lift the foot at the ankle, numbness or burning of the feet and/or hands, muscle wasting, poor balance, loss of hand dexterity and debilitating fatigue.
Additional symptoms may include chronic pain, sleep apnea, curvature of the spine, vocal cord paralysis, hearing loss, breathing and/or swallowing difficulties.
CMT is currently incurable, but not usually fatal, though it can be severely disabling. And, although there is no drug treatment for CMT, physical and occupational therapy, moderate activity, leg braces and even orthopedic surgery can be helpful.
Thankfully, I found the Charcot-Marie-Tooth Association (CMTA) soon after my son’s CMT diagnosis 19 years ago. The CMTA not only provides resources for people with CMT, but is aggressively pursuing treatments and cures for all types of CMT (over 100 genes have been identified as causing CMT) with its treatment-driven research initiative, STAR (Strategy to Accelerate Research). The ultimate goal of STAR is to slow, stop, reverse the progression of CMT. With the advent of gene therapies, a cure for CMT is within reach and closer than ever before.
Yohan is now 26 and has just graduated with his Masters in Organizational Psychology. With chronic fatigue, pain, scoliosis and extensive foot surgeries, Yohan has a positive outlook and a great sense of humor. His involvement with the CMTA (helping at Patient/Family conferences, answering CMTA member questions, speaking at national branch meetings and leading youth groups) has been most helpful in embracing the disease, creating resilience and reinforcing strength of character.
He knows there are a lot of very smart people working hard to bring treatments to the forefront and armed with this knowledge, he lives each day to the fullest, focused on the here and now.
This is a family disease and as such, many generations of families across the US are involved with some aspect of the organization –raising critical dollars for research, acting as reliable and knowledgeable resources for the community and helping others come to terms with the disease.
Together, we are out to change the world, one footstep at a time – http://www.cmtausa.org
bestfoot4wardblog 