Charcot Marie Tooth Syndrome (Disease): Diagnosis & Best Treatment 2019
Charcot Marie Tooth Syndrome (Disease): This guide will give you the 100% best diagnosis, causes and treatment options for CMT disease and disorder.
Charcot Marie Tooth Disease Overview:
- Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy. It is characterized by a progressive loss of muscle tissue and specific muscles and Sensation.
- From our standpoint, we will be looking at it from the foot. Currently this is an incurable disease, is a genetic neurologic disease.
- It affects one in about 2500 people.
Table of Contents
Signs and symptoms:
- Symptoms of Charcot-Marie-Tooth usually begin in childhood or adulthood. Although some people can experience it later.
- The first symptoms usually appear is foot drop. It can cause a hammer toes were the toes curl, and wasting of muscle in certain parts of the leg.
- This muscle wasting is called the “stork leg” or “inverted champagne bottle “
- It can also cause weakness in the hands and forearms.
Charcot marie tooth neuropathy:
- This also leads to loss of sensation foot, the ankles in the legs. This can also happen in the upper extremity.
- This can lead to ulcer formation and a very high arched foot. A very high arched foot is classically associated with this disease.
This is where surgery can be especially effective. By reducing the amount of high arch, and combining with good shoes and orthotics, this can relieve a significant amount of pressure.
Charcot marie tooth disease and breathing problems:
- There are other symptoms including scoliosis, breathing changes, gastrointestinal sternal changes, hip socket problems, hunching and loss of height. It can also lead to tremors and changes in vocal cords.
- This can also lead to complex regional pain syndrome. Among other diseases.
Charcot marie tooth muscular atrophy:
- CMT used to be classified as a subtype of muscular dystrophy.
- It does decrease the conduction to muscles, this leads to decreased function.
- Some muscles waste faster than others, especially in the feet and legs.
Causes of CMT disease:
- Charcot-Marie-Tooth syndrome is caused by mutations that cause defects in nerve proteins.
- Charcot-Marie-Tooth syndrome changes occur in the myelin sheath, this is the coding of nerve tissue. There are multiple different types including CMT1, CMT3, and CMT4
- There are also ones that damaged action nerve, this is called CMT2.
Chromosome 17:
The most common cause of Charcot-Marie-Tooth syndrome, up to 80% of cases, is in chromosome number 17.
Types of Charcot Marie Tooth (AKA):
- cmt1a
- charcot marie tooth type 1d
- charcot marie tooth disease type 1a
- charcot marie tooth disease type 2
- pxt3003
- cmt disorder
- cmt2a
CMT diagnosis:
- Charcot-Marie-Tooth is best diagnosed through symptoms. It can also be diagnosed by measurement of the nerve conduction studies.
- This is the speed of how fast the nerves conduct signals.
- DNA testing and nerve biopsies can also be performed.
The best way to diagnosis Charcot-Marie-Tooth:
- You should see a neurologist for this diagnosis, or physical medicine and rehabilitation doctor.
- They will work on identifying the neuropathy in the sensory loss by checking your deep tendon reflexes, such as the knee jerking.
- The neurologist or physical medicine. Dr. also asked about family history, diabetes, or other causes of neuropathy to roll these out.
- At this time, they can order nerve conduction studies and or take a biopsy.
Prognosis of Charcot-Marie-Tooth syndrome:
- Prognosis and symptoms can vary widely depending on the patient.
- This is a genetic disease, so management is the key rather than a cure.
- 2007 review article stated that life expectancy is not expected to be changed or altered in the vast majority of cases. “
CMT Treatment:
- We always hope for a new treatment or a cure, but management can be very successful!
- This can even relieve the neuropathy symptoms and pain significantly.
Treatment goals of Charcot-Marie-Tooth:
- The key is to maintain movement, flexibility and muscle strength.
- We work with physical therapists, occupational therapists, orthotist and other podiatrists.
- You should also see a neurologist for evaluation and initial diagnosis.
Physical therapy for Charcot-Marie-Tooth:
- There should be a daily focus on muscle strength training, stretching, and increasing your aerobic activity.
What can a podiatrist do?
- The biggest symptom in advanced disease is foot and ankle instability and foot drop.
- We find that a lace up ankle brace is a great start for most patients, but this is a big headache and many patients.
- It may be possible to get a hard rigid brace for foot drop, but we have success with dynamic braces, they have worked really well for patients to maintain their foot from dropping and strength.
Get regular foot care:
- This is where a medical pedicure and nail trimming can come in handy.
- This is important in a Charcot-Marie-Tooth syndrome patient, because there is minimal feeling in the toes, the toes can get ingrown, and there could be wound formation.
- This is probably the major reason we see Charcot-Marie-Tooth patients.
Great shoes and orthotics:
- Early on in the disease, we love great shoes and great orthotics.
- The difference in orthotic can make on a high arched foot type is amazing, especially if you’re getting bruising and bone formation to the ball or metatarsal region of your foot.
Our favorite heavy duty orthotics:
Get these if you can!
Best Medium to Heavy Duty Heel Pain Orthotics:
Best Overall Orthotic For Everything (Medium Thick Fit)
Best Heavy Duty Orthotic (Thickest Fit)
Best SOFTER Choice For Sensitive Feet (Medium Thick Fit)
Best Women's Orthotics
Price:
$14.90
$38.95
Price not available
Price not available
Overview:
These work best in shoes with laces and running shoes. Not good for dress shoes or women's cute shoes.
Biggest and most corrective option. Only use for running shoes or work boots. Not cute shoes.
These are full length inserts, but softer. Great if you can't tolerate the firmer ones. Best for very sore and sensitive feet.
Great Support & Better Fit
Pros:
Pretty much guaranteed to help you if it fits in your shoes and you give it 2 weeks to get used to. 5,000+ amazon reviews, great track record.
My personal favorite, but not for everyone. Amazing reviews over 3,500. But not for everyone. Only for bigger shoes that can fit them
They are softer and the initial break in time is AMAZING. But longer term benefits are less. >500 Almost 5 star amazon rating.
Sleek, supportive and have a better fit than the orthotics above.
Cons:
Do not wear these in cute or dress shoes!
Bigger and bulkier than all the other ones. You will be dissappointed if you have a cute women's shoe or dress shoe. This is meant for running shoes and boots.
Great to start with, but don't correct long term as much as the other ones.
A little bit more expensive.
Crucial Tips:
Ease in to these, 1-2hrs a day. They are like braces for your teeth, they suck at the beginning! But they will make your feet pain free as 1-2 weeks go by. Don't give up on them after 1 or 2 days. Everyone feels off at the beginning!
This has the most correction, but hardest break in time! IF SENSITIVE, USE A SOFTER PAIR FIRST! But if you get these, you must break them in. Give it 1-2 hours a day, but then you will start to have excellent results. The bad reviews are all people who couldn't fit it into their shoes and gave up too quickly. You have been WARNED!
If you are very sore, TRY THESE FIRST! These are easiest to break in with initially. If you are very sore and rigid, don't use the heavy duty ones to start with.
These will have a harder time fitting in flats and pointed shoes.
Affiliate Link (Buying through these links will connect you to Amazon):
Best Medium to Heavy Duty Heel Pain Orthotics:
Best Overall Orthotic For Everything (Medium Thick Fit)
Price:
$14.90
Overview:
These work best in shoes with laces and running shoes. Not good for dress shoes or women's cute shoes.
Pros:
Pretty much guaranteed to help you if it fits in your shoes and you give it 2 weeks to get used to. 5,000+ amazon reviews, great track record.
Cons:
Do not wear these in cute or dress shoes!
Crucial Tips:
Ease in to these, 1-2hrs a day. They are like braces for your teeth, they suck at the beginning! But they will make your feet pain free as 1-2 weeks go by. Don't give up on them after 1 or 2 days. Everyone feels off at the beginning!
Affiliate Link (Buying through these links will connect you to Amazon):
Best Medium to Heavy Duty Heel Pain Orthotics:
Best Heavy Duty Orthotic (Thickest Fit)
Price:
$38.95
Overview:
Biggest and most corrective option. Only use for running shoes or work boots. Not cute shoes.
Pros:
My personal favorite, but not for everyone. Amazing reviews over 3,500. But not for everyone. Only for bigger shoes that can fit them
Cons:
Bigger and bulkier than all the other ones. You will be dissappointed if you have a cute women's shoe or dress shoe. This is meant for running shoes and boots.
Crucial Tips:
This has the most correction, but hardest break in time! IF SENSITIVE, USE A SOFTER PAIR FIRST! But if you get these, you must break them in. Give it 1-2 hours a day, but then you will start to have excellent results. The bad reviews are all people who couldn't fit it into their shoes and gave up too quickly. You have been WARNED!
Affiliate Link (Buying through these links will connect you to Amazon):
Best Medium to Heavy Duty Heel Pain Orthotics:
Best SOFTER Choice For Sensitive Feet (Medium Thick Fit)
Price:
Price not available
Overview:
These are full length inserts, but softer. Great if you can't tolerate the firmer ones. Best for very sore and sensitive feet.
Pros:
They are softer and the initial break in time is AMAZING. But longer term benefits are less. >500 Almost 5 star amazon rating.
Cons:
Great to start with, but don't correct long term as much as the other ones.
Crucial Tips:
If you are very sore, TRY THESE FIRST! These are easiest to break in with initially. If you are very sore and rigid, don't use the heavy duty ones to start with.
Affiliate Link (Buying through these links will connect you to Amazon):
Best Medium to Heavy Duty Heel Pain Orthotics:
Best Women's Orthotics
Price:
Price not available
Overview:
Great Support & Better Fit
Pros:
Sleek, supportive and have a better fit than the orthotics above.
Cons:
A little bit more expensive.
Crucial Tips:
These will have a harder time fitting in flats and pointed shoes.
Affiliate Link (Buying through these links will connect you to Amazon):
Best dress shoe orthotics:
Get these if you have dress shoes:
Best Dress Shoe Orthotics:
Best Fitting Dress Shoe Orthotic (3/4")
Best Full Length Dress Orthotic.
Great Heavy Duty Insole for Men
Price:
Price not available
Price not available
$29.95
Overview:
This is my top choice due to best fit. It is a little less supportive than full length, but fit is the key in dress shoes!
Best option if you can fit a full length orthotic. This does give you most control.
Great price and heavy duty insole for Oxford shoes.
Pros:
Excellent overall fit. This will fit in almost every dress shoe. Excellent reviews and reasonable cost overall. Can't go wrong in most cases.
Great color dress option. Not the most corrective, but very color and dress appropriate. Great Reviews. Better correction and relief than the 3/4" length.
These fit in most shoes and have really good predictable results
Cons:
Less correction than full length and heavy duty orthotics.
These can have a poor fit in in some shoes. If you have tight shoes, DO NOT BUY the full length orthotic! You have been warned.
They are not full length and thus do not provide as much support
Crucial Tips:
If you haven't used dress orthotics before, get this one and avoid poor fit. If you wear dress shoes every day with room, the full length might give you more support.
This is will work great in most men's shoes that are not pointy. If you have a rounded toe box, this will probably work well. If a tight shoe go with the 3/4" length.
Get these for Oxford and pointed shoes. This will provide best results.
Affiliate Link (Buying through these links will connect you to Amazon):
Best Dress Shoe Orthotics:
Best Fitting Dress Shoe Orthotic (3/4")
Price:
Price not available
Overview:
This is my top choice due to best fit. It is a little less supportive than full length, but fit is the key in dress shoes!
Pros:
Excellent overall fit. This will fit in almost every dress shoe. Excellent reviews and reasonable cost overall. Can't go wrong in most cases.
Cons:
Less correction than full length and heavy duty orthotics.
Crucial Tips:
If you haven't used dress orthotics before, get this one and avoid poor fit. If you wear dress shoes every day with room, the full length might give you more support.
Affiliate Link (Buying through these links will connect you to Amazon):
Best Dress Shoe Orthotics:
Best Full Length Dress Orthotic.
Price:
Price not available
Overview:
Best option if you can fit a full length orthotic. This does give you most control.
Pros:
Great color dress option. Not the most corrective, but very color and dress appropriate. Great Reviews. Better correction and relief than the 3/4" length.
Cons:
These can have a poor fit in in some shoes. If you have tight shoes, DO NOT BUY the full length orthotic! You have been warned.
Crucial Tips:
This is will work great in most men's shoes that are not pointy. If you have a rounded toe box, this will probably work well. If a tight shoe go with the 3/4" length.
Affiliate Link (Buying through these links will connect you to Amazon):
Best Dress Shoe Orthotics:
Great Heavy Duty Insole for Men
Price:
$29.95
Overview:
Great price and heavy duty insole for Oxford shoes.
Pros:
These fit in most shoes and have really good predictable results
Cons:
They are not full length and thus do not provide as much support
Crucial Tips:
Get these for Oxford and pointed shoes. This will provide best results.
Affiliate Link (Buying through these links will connect you to Amazon):
Best women’s shoe orthotics:
Only if you have tight shoes that won’t fit the other ones!
Best Flat Shoe (Non-Lace Up) Orthotics:
Best Overall 3/4" length option. (Not Heavy Duty, But Fit Focused)
Best Choice For Tight Women's Shoes or High Heels..
Price:
Price not available
Price not available
Overview:
Great 3/4" choice. These work great in every shoe without laces. Not meant for heavy duty correction.
These are the best fitting for the most narrow shoes. Some but not great correction.
Pros:
Excellent fit, they are reliable with excellent reviews. You are going to be happy with these, just never SUPER happy because they don't correct as much.
They will fit in even the tightest shoes! Guaranteed to make you feel better, but you know what you are getting in a tight shoes. Great reviews and price.
Cons:
They are not super corrective. In some cases its like trying to using a 2 seat car to haul gravel. It looks and feels great but does
At the end of the day high heels and slender orthotics help, but never cure all your pain. Make the best of a painful shoe!
Crucial Tips:
These have a faster break in period than the heavy duty type. If after a few weeks
**WARNING***: If your shoe almost just barely fits onto your foot, this WILL NOT FIT! Be aware, it still needs a small amount of space to fit.
Affiliate Link (Buying through these links will connect you to Amazon):
Best Flat Shoe (Non-Lace Up) Orthotics:
Best Overall 3/4" length option. (Not Heavy Duty, But Fit Focused)
Price:
Price not available
Overview:
Great 3/4" choice. These work great in every shoe without laces. Not meant for heavy duty correction.
Pros:
Excellent fit, they are reliable with excellent reviews. You are going to be happy with these, just never SUPER happy because they don't correct as much.
Cons:
They are not super corrective. In some cases its like trying to using a 2 seat car to haul gravel. It looks and feels great but does
Crucial Tips:
These have a faster break in period than the heavy duty type. If after a few weeks
Affiliate Link (Buying through these links will connect you to Amazon):
Best Flat Shoe (Non-Lace Up) Orthotics:
Best Choice For Tight Women's Shoes or High Heels..
Price:
Price not available
Overview:
These are the best fitting for the most narrow shoes. Some but not great correction.
Pros:
They will fit in even the tightest shoes! Guaranteed to make you feel better, but you know what you are getting in a tight shoes. Great reviews and price.
Cons:
At the end of the day high heels and slender orthotics help, but never cure all your pain. Make the best of a painful shoe!
Crucial Tips:
**WARNING***: If your shoe almost just barely fits onto your foot, this WILL NOT FIT! Be aware, it still needs a small amount of space to fit.
Affiliate Link (Buying through these links will connect you to Amazon):
Get yourself a good ankle brace:
Good ankle brace will help stabilize your foot, this will help with foot drop, and limit the instability.
Ankle stability braces:
- Stability ankle braces provide more correction:
Best Ankle Stability Braces (Not for Compression):
The Best Overall Brace For Fit & Support.
Most Supportive Premium Brace.
Best Budge Supportive Brace.
Price:
$49.99
$80.00
$29.97
Overview:
Amazing brace, best fit and support combination: If you can afford it.
This is the best brace for pure support, but it can't fit in more snug shoes.
Outstanding brace for the price point. This is a figure 8 strap with laces, soft interface.
Pros:
Amazing brace. Best reviews and best fit. This is the Ferrari of braces if you can afford it.
This is a very highly rated, great reviewed brace. The support and stability is top notch for athletics. Very durable and does it's job.
Amazing reviews with proven track record. This is very soft and supportive in your shoe.
Cons:
The only downside besides cost, is complexity. This brace must be left or right. Not interchangeable. It is also for post-injury situations and good support. Not for compression!
The brace may be a little too big for a more snug shoe. This requires some room to fit and would be the main complaint. Hard interface along the padding.
The main downside is the durability and the ability for the material to give out. Great at first but maybe 3-4 months of continuous use prior to failure.
Important Tips:
Make sure to choose left vs. right. This is a high level brace mean specifically for injury support. This is not for compression or non-injury situations. It will be too tight.
This is a fantastic and supportive brace. Just make sure that your shoe will have some room for it to fit. Most good running shoes should let it fit.
This is an excellent starter brace if you have never had a brace before. It is a little longer to put with the straps and laces.
Affiliate Link (Buying through these links will connect you to Amazon):
Compare Stores:
Best Ankle Stability Braces (Not for Compression):
The Best Overall Brace For Fit & Support.
Price:
$49.99
Overview:
Amazing brace, best fit and support combination: If you can afford it.
Pros:
Amazing brace. Best reviews and best fit. This is the Ferrari of braces if you can afford it.
Cons:
The only downside besides cost, is complexity. This brace must be left or right. Not interchangeable. It is also for post-injury situations and good support. Not for compression!
Important Tips:
Make sure to choose left vs. right. This is a high level brace mean specifically for injury support. This is not for compression or non-injury situations. It will be too tight.
Affiliate Link (Buying through these links will connect you to Amazon):
Compare Stores:
Best Ankle Stability Braces (Not for Compression):
Most Supportive Premium Brace.
Price:
$80.00
Overview:
This is the best brace for pure support, but it can't fit in more snug shoes.
Pros:
This is a very highly rated, great reviewed brace. The support and stability is top notch for athletics. Very durable and does it's job.
Cons:
The brace may be a little too big for a more snug shoe. This requires some room to fit and would be the main complaint. Hard interface along the padding.
Important Tips:
This is a fantastic and supportive brace. Just make sure that your shoe will have some room for it to fit. Most good running shoes should let it fit.
Affiliate Link (Buying through these links will connect you to Amazon):
Compare Stores:
Best Ankle Stability Braces (Not for Compression):
Best Budge Supportive Brace.
Price:
$29.97
Overview:
Outstanding brace for the price point. This is a figure 8 strap with laces, soft interface.
Pros:
Amazing reviews with proven track record. This is very soft and supportive in your shoe.
Cons:
The main downside is the durability and the ability for the material to give out. Great at first but maybe 3-4 months of continuous use prior to failure.
Important Tips:
This is an excellent starter brace if you have never had a brace before. It is a little longer to put with the straps and laces.
Affiliate Link (Buying through these links will connect you to Amazon):
Compare Stores:
Ankle compression braces:
- Compression ankle braces can help decrease pain, and decrease swelling:
Best Heel & Ankle Compression Braces:
Best Premium Brace (Support & Compression)
Budget Brace With Some Compression & Some Support.
Best Pure Compression & Slim Fit Ankle Support
Price:
$80.00
$19.52
Price not available
Overview:
This is The Top Level Brace - Does Compression, Support & Great Fit.
This brace attempts mild compression and mild support.
Focused on great fit and excellent overall compression. Little focus on support.
Pros:
Excellent brace: Best overall mix of compression & support, and it still fits in most shoes! If you have a chronic injury and need to wear normal shoes => This is the BEST CHOICE.
Good rating at 4.3 with 2,000 reviews. It is cost effective and gives some support with some compression. Does both ok, but excellent when price is factored in.
Excellent reviewmost 2,000 5 star reviews. Great fit into almost any type of shoe. Very Slim, very cost effective.
Cons:
Expensive. It doesn't do any single thing the best. There are cheaper and more supportive braces, there are cheaper and more compressive braces. But no braces combine the two and still fit in a shoe.
Does not really do anything well. Weak support and not the best compression. Meant as an assist for chronic pain and low activity. Not for an acute injury.
Does not really provide stability. It still likely is not thin enough for a dress shoe or a dress heel combined with a sock.
Important Tips:
This is a high durability brace for everyday use. If you have chronic arthritis or pain with a high need for activity, this is your brace to use! **Gel inside seems to deteriorate after daily washing at about 1 year old**
This is mean for lower activity and better fit than a true supportive brace. Don't use this for an acute sprain or injury.
This is excellent for what it does. Which is simple compression with minimal support. This would be great with an orthotic and running shoe in a non-acute/severe injury.
Affiliate Link (Buying through these links will connect you to Amazon):
Best Heel & Ankle Compression Braces:
Best Premium Brace (Support & Compression)
Price:
$80.00
Overview:
This is The Top Level Brace - Does Compression, Support & Great Fit.
Pros:
Excellent brace: Best overall mix of compression & support, and it still fits in most shoes! If you have a chronic injury and need to wear normal shoes => This is the BEST CHOICE.
Cons:
Expensive. It doesn't do any single thing the best. There are cheaper and more supportive braces, there are cheaper and more compressive braces. But no braces combine the two and still fit in a shoe.
Important Tips:
This is a high durability brace for everyday use. If you have chronic arthritis or pain with a high need for activity, this is your brace to use! **Gel inside seems to deteriorate after daily washing at about 1 year old**
Affiliate Link (Buying through these links will connect you to Amazon):
Best Heel & Ankle Compression Braces:
Budget Brace With Some Compression & Some Support.
Price:
$19.52
Overview:
This brace attempts mild compression and mild support.
Pros:
Good rating at 4.3 with 2,000 reviews. It is cost effective and gives some support with some compression. Does both ok, but excellent when price is factored in.
Cons:
Does not really do anything well. Weak support and not the best compression. Meant as an assist for chronic pain and low activity. Not for an acute injury.
Important Tips:
This is mean for lower activity and better fit than a true supportive brace. Don't use this for an acute sprain or injury.
Affiliate Link (Buying through these links will connect you to Amazon):
Best Heel & Ankle Compression Braces:
Best Pure Compression & Slim Fit Ankle Support
Price:
Price not available
Overview:
Focused on great fit and excellent overall compression. Little focus on support.
Pros:
Excellent reviewmost 2,000 5 star reviews. Great fit into almost any type of shoe. Very Slim, very cost effective.
Cons:
Does not really provide stability. It still likely is not thin enough for a dress shoe or a dress heel combined with a sock.
Important Tips:
This is excellent for what it does. Which is simple compression with minimal support. This would be great with an orthotic and running shoe in a non-acute/severe injury.
Affiliate Link (Buying through these links will connect you to Amazon):
Charcot-Marie-Tooth Surgery:
- Foot surgery can be very effective: In short, Marie tooth disease, especially the advanced disease.
This is where surgery can be especially effective. By reducing the amount of high arch, and combining with good shoes and orthotics, this can relieve a significant amount of pressure.
Goals of Foot & Ankle Surgery:
- You prefer to stick towards surgery that relieves wound risk formation.
- The most common types of wound risk is ball of the foot ulcers, and big toe joint ulcers.
- What this lets us do is soft tissue procedures, and sometimes bone procedures to make the foot. Flatten out, rather than being such a high arch.
Charcot-Marie-Tooth Surgery Recovery Time:
- Sometimes a very quick healing surgery (immediate weight-bearing) can really improve the quality of life, and have you back in a regular shoe walking better than before the surgery within about a month.
- These can be thought of as high arched foot, or cave’s foot type correcting surgeries.
Associated Foot Problems:
Consider Plantar Fasciitis:
- Plantar fasciitis can be a very common symptom in a cavus foot type.
- This guide will show you how to handle the plantar fasciitis component of your CMT!