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Ask The Expert

Wish you had some 1-on-1 time with an expert CMT Neurologist? Now you do!

Join our “Ask the Expert” weekly with Dr. Florian Thomas and Dr. Jafar Kafaie. Knowledge is Power!

Dr. Florian Thomas

Dr. Thomas is a clinician and researcher, board-certified in neurology and neural repair and rehabilitation.

CMT has been a big part of Dr. Thomas’ professional career for over 25 years. After medical and graduate school, Dr. Thomas completed training in Neurology at Case Western Reserve University in and in Peripheral Nerve Disorders at Columbia University. He earned a Ph.D. in Molecular Biology at McGill University, and joined St. Louis University in 1995. For 20 years he has engaged in basic research & clinical research of acquired and hereditary neuropathies and multiple sclerosis. He has worked with both the CMTA and the Hereditary Neuropathy Foundation and established neuropathy Centers of Excellence in Missouri and New Jersey where in 2016 he became chair of Neurology in Hackensack.

Dr. Thomas is dedicated to providing patient-centered comprehensive care that addresses each person’s physical and emotional needs. He supports patients and caregivers affected by chronic conditions to self-advocate, engage in their own care, and maintain a positive attitude.

Dr. Jafar Kafaie

Dr. Kafaie is an Associate Professor in the Department of Neurology.  He treats patients with neuromuscular diseases including motor neuron disease, muscle diseases, neuromuscular junction disorders and different forms of peripheral neuropathies. He has appointments with both SSM- Saint Louis University Hospital and Cardinal Glennon Children Hospital and takes care of patient both in pediatric and adult clinics. He does electrodiagnostic tests (nerve conduction study and electromyography) on both sites. He is the director of HNF- Designated CMT center of Excellence in Saint Louis University. He is side director for multiple clinical trials including a large international study on CMT1A. Dr. Kafaie is also director of the adult neurology residency program and is extensively involved in the teaching of residents. 

Dr. Kafaie was born and raised in Tabriz, Iran.  He attended Tehran Medical University and obtained his Ph.D. from McGill University before doing his residency followed by a fellowship in neuromuscular medicine at Washington University in Saint Louis, MO.

Dr. Kafaie is a member of the American Association of Neurology and the American Association of Neuromuscular and Electrodiagnostic Medicine.

Submit Your Question

If you would like to ask a question, we invite you to do so by filling out the form above. We will send Dr. Thomas and Dr. Kafaie your questions and posting their responses as they come in. Please understand if they are unable to get to your question due to time or topic constraints.

Disclaimer: This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. Thanks in advance for your participation!


What should I be getting myself checked for with a doctor?

As a child doctors would measure and document my strength and offer me options that could facilitate my life. But, now that I’m not a child anymore, I don’t know what I should be doing or getting checked for in regards to CMT.

Dr. Florian Thomas: I have a couple of suggestions. Two independent conditions can both damage the same organ, e.g. nerves. That can happen at any point in a person’s life. I take care of several CMT patients who 10 years after their first visit developed diabetes, which further damaged their nerves. So that is an issue that your doctors need to check for periodically. As we get older more of us become B12 deficient. That is another issue that I check my patients for regularly. As patients with CMT get older they may need bone densitometry tests and, if abnormal, may need to be treated for bone loss. Patients may not need ankle braces when they are younger, but need them as they get older. Patients may have no problems with finger/hand function when they are younger, but may require adapted (“gloved”) tools later, such as pens, kitchen utensils, tooth brushes, hair brushes, etc.

So in summary, regular evaluations by a neuromuscular physician and rehab therapists make sense to me, with the frequency being individualized. Some patients worry about how CMT affects their lives in the personal, social, and professional world with issues such as: having children, performing at work, others thinking that the patient is drunk when the patients walks abnormally; they may also worry about their appearance when they have very skinny legs. Patients may be reluctant to use canes or ankle braces because they don’t want to “look” or “feel” sick, but not doing so may increase their fall risk. So talking to a counselor is often helpful.

What are the best ways to live with CMT (CMT2)?

At what point is it considered a disability?

Dr. Florian Thomas: I advise my patients with CMT to take care of one’s body, avoid gaining weight, minimize the risk of additional neuropathies besides CMT (such as caused by diabetes or too much alcohol), exercise to keep one’s heart and blood vessels healthy and take care to avoid falls by using ankle braces (if necessary), get monitored for bone loss (so that if one falls, one does not break a bone), follow up with your team of doctors and rehab therapists, and lead a happy healthy life in general.

Is there a physical therapy/workout routine DVD or equipment for CMT?

My thinking is unaffected muscles should not be allowed to atrophy from disuse because others are affected. Yet one wants to avoid overuse of affected muscles.

Dr. Florian Thomas: I agree. Overall, exercise is good for patients with CMT, assuming you are otherwise healthy. It is good for the brain and may protect against diabetes. Even if the foot and hand muscles are weak and may not respond to exercise, keeping the muscles closer to the hips and shoulders strong may help with endurance. There is no evidence to recommend one form of exercise over another. Swimming may be preferable for people who feel unsteady. Whether too much exercise of already weak muscles can damage them, is controversial. I suggest you first see a physical therapist and have that person advise you as to a good exercise routine.

Is it common to have stomach issues when you have HNPP?

Could this have anything to do with my nerves in that area?

Dr. Florian Thomas: While I have taken care of many patients with HNPP, it is possible that many others go undiagnosed and we may not yet fully the breadth of symptoms that can be associated with this condition. There are no large studies that have documented stomach, bladder or heart rhythm issues in HNPP. But there are individual case reports which however cannot prove that HNPP is the cause of such issues as opposed to a change association. Whenever a person has a diagnosis, it is easy for both the patient & their doctors to assume that other symptoms result from that one condition; that assumption may be true or false. It is important to not jump to conclusions until other causes of symptoms have been fully evaluated. You may want to seek a referral to a gastroenterologist who is an expert in the lower intestinal tract.

What would happen if two people with CMT were to have a child?

What if they had CMT type 1A and CMT type 2?

Dr. Florian Thomas: The medical-genetic term for the scenario you describe is “compound heterozygote”. “Heterozygote” means that a person has one copy of a mutated gene (as opposed to homozygote when a person has two such copies) and “compound” refers to two independent issues in one person. There are a couple of such instances reported in the literature in general. I myself have published 3 such instances when patients had an hereditary muscle disease and a hereditary nerve disease. What would happen in the situation you describe is not easily predictable, because:

(1) When one person with an autosomal dominant condition (meaning one bad gene copy will cause disease) and another person with a different autosomal condition have children, each prospective parent has a 50% chance of passing on the mutation. So on average (!!!) 25% of children will inherit the “good” copies of each gene, 25% will inherit the “bad” copies of each gene, and 50% will inherit one bad copy from one parent and one good copy from the other parent. 

(2) It depends in part on any interaction between the proteins resulting from the CMT1A mutation and the CMT2 mutation. That is a very complex issue which also depends on the very specific mutation.


Can alcohol make CMT symptoms worse either directly or indirectly by the alcohol causing B12 deficiency?

Dr. Florian Thomas: People who consume a lot of alcohol such that a significant portion of their daily calories come from alcohol, often are lacking in regular nutrition and thus can become vitamin deficient, and many vitamin deficiencies can damage nerves.

Is CMT linked to brain fog?

Dr. Florian Thomas: Given that CMT in the overwhelming majority of patients is limited to peripheral nerves, there is little biological basis for “brain fog”. However in addition to intrinsic brain conditions, symptoms such as mental fatigue can result from sleep deprivation and depression which could occur for a number of reasons in people with CMT. Thyroid disorders and vitamin B12 deficiencies can cause “brain fog” and those can be identified with simple blood tests. Furthermore, “brain fog” is common in people who take many medications that affect the brain, e.g. for neuropathic pain, anxiety, depression, insomnia, high blood pressure, and many others.

Is there a medical specialist familiar with CMT that can look at gait biomechanics and walking efficiency?

I have been diagnosed with CMT type 2 and have two main problems: rapid muscle fatigue and balance difficulties. I get tired easily if I do repetitive things like walking up a hill and have a hard time recovering whenever I get off balance. I go to the gym everyday and do feel stronger, but this has had no impact on the muscle fatigue or how often I fall. I wear AFOs and have seen physical therapists, but am looking for more help.

Is there a medical specialist familiar with CMT or similar diseases that can look at gait biomechanics and walking efficiency? I am looking to see if there is a way I can change the way I move so I don’t get tired as quickly and don’t lose my balance so often.

Dr. Florian Thomas: I suggest you ask your neurologist for a referral to a physical therapist that specializes in patients with neurological conditions. There are ways to improve balance through training. And fatigue can occur in foot drop not corrected by ankle braces or surgery, because it forces patients to lift their thighs higher to clear the ground.

WATCH CMT-Connect Webinar: CMT & Balance HERE

I never had genetic testing to make sure what type of CMT I have. What exactly do I have to do?

I was diagnosed with CMT just as I had started to walk. That was right around 1 year old. My father had it as well, so when my mother was pregnant with me, she knew full well that there was a 50/50 chance that her first child would also be born with CMT. And I surely was. I am just about 40 years old now, and had to start using a wheelchair full-time when I was 10 years old.

The biggest problem I face is for years, my local doctors seem to just placate me, tell me something I might want to hear, and then I’ve been out the door. I have never had any real genetic testing to make sure what type of CMT I have and I’ve asked my doctors to help me with that.

What exactly do I have to do?

Dr. Florian Thomas: I am trying to imagine how you mastered the challenges of growing up with CMT from such a young age.

To get expert help, I suggest you find a CMT Center to where you live. Of course I don’t know if you are in the USA. If so, I suggest you look at

If none of the centers listed at these 2 websites work for, you could reach out to me & let me know what city is within relatively easy reach for you. I can do some digging.

Such centers will be familiar with the type & severity of CMT that you have, will know what kind of rehab is most appropriate for you and where to get it and have access to geneticists who can advise your entire family.

Does the drug AMPYRA help people with CMT 1A who are losing leg muscle strength?

Dr. Florian Thomas: The role of drugs from the Ampyra family has not been sufficiently investigated to allow for a recommendation. I am aware of a single case report that addresses this issue. However the patient’s presentation was unusual for CMT, no genotyping was reported, and the use of aminopyridine was not controlled; this greatly limits the generalizability of the observed benefit.

Can CMT cause A-Fib?

…because of the nightly severe leg cramps that constrict the muscles, which in turn cause blood clots? Or is it not possible for the leg cramps to cause blood clots?

Dr. Jafar Kafaie: Great question. Blood forms clot in the leg when either blood flow is interrupted by a physical barrier to its flow, lack of mobility, or there is a hypercoagulability process. Muscle contractions contribute to better blood flow in the legs by pumping the blood up toward the abdomen (from legs to the thighs). It is highly unlikely that muscle cramps in isolation cause blood clot. There is no evidence to support higher prevalence or incidence of a fib in CMT1A. These two diseases are common and can be seen in CMT pts like the others. 

Having said that, please make sure that your AFOs are not very tight blocking the blood flow at your legs.
Are my symptoms in my knees lower legs, feet and fatigue related to HNPP?

I have been diagnosed with HNPP and my doctor says that my symptoms of pain in my knees and neuropathy in my legs and feet are not related. He also says that my fatigue is not related to HNPP. Are my symptoms in my knees lower legs, feet and fatigue related to HNPP?

Dr. Florian Thomas: Let me offer you a 3 part answer:

  • Pain in your knees may or may not be related to HNPP. A careful history & examination by 2 experts, a neurologist for CMT/HNPP, & an orthopedic surgeon specialized in knee issues, should be able to tease apart the relative contributions from HNPP & conditions intrinsic to the knees & unrelated to HNPP.
  • HNPP can present in several different ways. While many people have recurrent focal neuropathies that may improve, some have a chronic progressive neuropathy similar to typical CMT. But a person with HNPP or CMT can also develop a 2nd neuropathy, for instance due to diabetes or autoimmunity or something else. It is important to consider additional causes when a person presentation changes.
  • HNPP should not cause fatigue when it presents with typical symptoms. There are many causes for fatigue that your internist & your neurologist should discuss with you. When HNPP presents more with a CMT like picture, this could cause fatigue.
My calf muscles have wasted away, affecting my balance and walking. Can these muscles ever be restored?
Question: My calf muscles have wasted away, affecting my balance and walking. Can these muscles ever be restored?
Dr. Thomas: Thank you for sharing that question. In CMT the calf muscles waste away because the nerve fibers to the muscle are damaged. In order to avoid this the disease process in the nerve fibers must be halted or reversed. 
That is the goal of numerous CMT drug trials in various stages across the globe. 
Some of these experimental drugs target only specific genes that are mutated in CMT, while others may benefit patients with different CMT subtypes. While we have had encouraging news from some of them, none are yet close to FDA approval.
I have CMT1A as does my mother and my daughter. My toes have started to curl in and it hurts to walk. Is there anything to do to help this? I was fitted for shoes and they only seem to help when wearing them. Any suggestions to stop this deformation?
Question: I have CMT1A as does my mother and my daughter. My toes have started to curl in and it hurts to walk. Is there anything to do to help this? I was fitted for shoes and they only seem to help when wearing them. Any suggestions to stop this deformation?

Dr. Thomas: Here are my thoughts:


  • I agree with your initial choice of looking at specialized footwear that protects from such pain.


  • Ask your neurologist for a referral to a foot-&-ankle orthopedic surgeon. There are multiple surgical options including toe pinning, tendon transfers, tendon lengthening, bone re-arrangement. They can be very helpful, but they are quite invasive. Indications include pain that does not respond to other treatments, falls that don’t respond to ankle braces, and skin breakdown. Please note that this is very subspecialized orthopedic surgeon. Typically you will find such a person only in large academic medical centers. That person will have completed a 1-2 foot-&-ankle fellowship. I urge you to do your homework before selecting a surgeon. I suggest you inquire how many such surgeries on CMT patients (s)he has done since graduating from fellowship and in the past 12 months. I would also get 2 separate opinions. In the attached recent publication from a team of thought leaders in the field you will also find their names/locations/
Good luck!
Florian Thomas
Does neuropathy impact on the colouring of your skin e.g. after a shower, when it is cold?
Question: Does neuropathy impact on the colouring of your skin e.g. after a shower, when it is cold?
Dr. Thomas: Skin color is impacted by many factors. Of those skin perfusion can be impacted by neuropathy via 2 mechanisms:
  • The weakness in CMT of the lower leg muscles limits the movement venous blood that has already released oxygen to the tissues to get stuck there; this can lead to ankle swelling & dark red skin discoloration. This would be relieved by lying down.
  • The blood vessels themselves, in some forms of CMT can lose the nerve supply; this as well can lead to skin discoloration.
What is necessary to definitively diagnose a type of CMT today?

Is genetic testing reliable and sufficient?

Dr. Florian Thomas: Assuming that a patient’s history, examination, and family history all point towards CMT, an electrodiagnostic study (often called EMG) can confirm that diagnosis and help tell apart normal conduction speed CMT2 from slow conduction speed CMT1. Half of all CMT patients (those with CMT1A) share the same genetic anomaly, that is a doubling up of a region on chromosome 17 which contains the PMP22 gene. So by testing just for mutations in that gene, one will identify the subtype in many people. A couple of other genes are implicated in another ~25% of patients. The rest has mutations in another 80 genes. And testing for most of those can be done
and is in part covered by many medical insurances.

Do you have any suggestions for pain management?

Dr. Florian Thomas: Patients with CMT can have both musculoskeletal pain (originating in joints, tendons) and neuropathic pain (often described as tingling or burning). So the first step is to for a physician to analyze the pain for causes. Chronic pain is best addressed by a psycho-socio-bio-logical paradigm, because chronic pain can lead to sleep problems, sadness, social withdrawal and fear of more pain resulting in a vicious cycle because if a person is unhappy, the tolerance for pain is lowered. Counseling psychologists can help people with chronic pain have a better quality of life despite pain.

Is it possible that HNPP affects fertility?

Knowing I could pass the condition on to a child was definitely the hardest part of my diagnosis.

Dr. Florian Thomas: Geneticists can advise as to childbearing. I had a patient who was quite affected with CMT and did not want to pass it on. She underwent prenatal testing and found out that her baby was not going to be affected. When a person struggles the consequences of an illness such as CMT, often a psychological counselor can help a person cope better and live life to the fullest despite the condition.

Many of us with CMT1A experience ongoing issues with gastrointestinal (GI) motility...

Is this an area that has been researched with, for example, patient surveys of a sizable population?

Dr. Florian Thomas: There is not a whole lot of evidence for CMT1A affecting GI motility, but studies are limited. If you consider how CMT affects the longest nerves earlier than shorter nerves, that makes sense. People have problems in their feet and ankles much earlier than in their thighs. They may drop things from their hands long before their shoulders are weak. Many nerves to the gut are relatively short. Of course there are many tests that specialized gastroenterologists use to find the causes of constipation and gastroparesis so if I were you, I would ask my neurologist for a referral to the GI department of a major university medical center where you are more likely to find such experts.

Can CMT symptoms be caused by B12 deficiency instead of the person actually having CMT?

Dr. Florian Thomas: B12 deficiency cannot cause CMT. But B12 deficiency can cause an acquired neuropathy.

Does CMT cause hypermobility, loose ligaments, and swan-neck deformity in hands/fingers?

Is Ehlers-Danlos syndrome a possibility?

Dr. Florian Thomas: CMT does not cause loose ligaments, but the finger deformities that can result in CMT from muscle weakness can superficially resemble the swan-neck deformity seen in Ehlers-Danlos. Given how rare Ehlers-Danlos is, it may not be easy to find a physician with a lot of experience. The condition may fall into the domain of dermatologists and orthopedic surgeons. I would start with one of these specialists, probably in a major medical center.

Has there been, or plan to be, any serious research into medical marijuana on the effects of CMT?

Dr. Florian Thomas: There is a dearth of studies on medical benefits of marijuana in any form. This has several reasons. For one it is essentially impossible to have a double blinded, placebo controlled study, since people will feel the effects of marijuana. One can study some of the 200-300 components of marijuana that lack mind-altering properties in controlled studies, but an individual component obviously does not reflect all that is in marijuana. In other conditions marijuana seems to help pain and spasms, but of course other medications can help with that. And marijuana can make people fatigued and compromise reaction times. Typically marijuana does not improve skin sensation or muscle strength.

I have CMT 1A and had shoulder surgery. It took almost 1 month to get my stability back. Is this from the nerve block/ anesthesia?

I have CMT 1A. I had shoulder surgery in February. Nerve block and general anesthesia. It took me almost one month to get my stability back. Is this from the nerve block/ anesthesia? And will it get worse with any future surgeries?

Dr. Florian Thomas: While theoretical concerns exist about nerve blocks and general anesthesia in CMT, obviously patients with CMT may need to undergo surgery, and small case series have not shown particular problems with various forms of anesthesia. It’s unclear if you mean “imbalance” when you describe how long it took to get your stability back. Regardless, you may want to review the details of the surgery and the anesthesia with your neurologist. And should you need anesthesia in the future, it would be important for the surgeon, the neurologist and the anesthesiologist to discuss which anesthesia might be best for you and how to best position you so as to avoid nerve compression.

After a routine operation, I immediately experienced symptoms that led to a diagnosis of CMT1A. Do you know if any of these drugs are contraindicated for those with CMT?

I had a simple belly button hernia operation that required general anesthesia. The drugs used were: dexamethasone, cefazolin, midazolam, propofol, ondansetron, rocuronium, droperidol, fentanyl C, glycopyrrolate, neostigmine, and ketorolac. None of these drugs are on the CMT “hit list”. But I 100% believe the procedure caused me to IMMEDIATELY experience two symptoms – breathing problems and tingling in my right leg. That led to me discovering I had CMT1A. Do you know if any of these drugs are contraindicated for those with CMT?

Dr. Jafar Kafaie: Interesting question. To the best of my knowledge, there is no data relating these medications (solo or in combination) to CMT1A flare-up. However, the lack of the evidence does not mean it is impossible. Another explanation would be that you already had neuropathy (CMT1A) now during the surgery and possibly because of your specific positioning during the surgery or intubation, you developed transient focal neuropathies on top on your CMT1A. That is why you experienced a tingling sensation on your leg (possible peroneal neuropathy, for instance) and had a respiratory problem. Usually, these superimposed acute neuropathies are demyelinating form and resolve in a matter of weeks to months if not very severe.

I have symptoms consistent with CMT, but because my symptoms are asymmetrical my doctor said I don't have CMT because CMT is always symmetrical. Is this true?
I have left enlarged sciatic nerve segment (3cm diameter), left peroneal neuropathy, left high arch foot with slight hammertoes, mild scoliosis, and my right foot has a slightly high arch and slight decrease in muscle tone in the small muscle on the side of the right foot, but the right side seems pretty much normal.

Dr. Florian Thomas: While typically CMT presents with fair symmetry, this is not always 100%. One CMT related condition in which symmetry is not expected is HNPP (hereditary neuropathy with liability to pressure palsy). With all other forms of CMT there should be symptoms & signs of neurological problem on both sides of the body, even when there is asymmetry. Electrodiagnostic studies and genetic testing should be considered. However many conditions can result in the clinical features you describe. I suggest you take all existing studies to the neuromuscular specialists at an academic medical center for a 2nd opinion.

I am having trouble understanding my diagnosis since it says "carrier" and also "recessive"...
Question: I was just diagnosed at 48 years old. I have been getting testing over the last couple years to rule out ALS due to the continuing atrophy, twitching, sometimes non-stop fasciculations and trouble catching a breath at times. Neurology ran a DNA test that came back with one pathogenic varient ICHMBP2 associated with autosomal recessive CMT. The variant classification said Pathogenic and the result said “Carrier”. Having trouble understanding how this could be my diagnosis since it says “Carrier” and also “recessive”. Neurology said it’s possible and explains symptoms. Can you give me your opinion? I don’t tick all the boxes on the checklists for sure. My hands cramp and recently contracted but feet okay. I have atrophy on my back (which doesn’t seem to fit) in addition to legs, arms and hands. Thank you! 

Dr. Florian Thomas: The question Mr. Koster raises comes up a lot when one tests for mutations in people with neuropathy. Over the past few weeks I have found mutations of “unknown significance” in several patients. This happens when such a mutation has never been previously linked to neuropathy or only in a few patients. There is no way of knowing if such a genetic change is a red herring (true but unrelated to neuropathy) or causative, unless one can document that in one family, preferably with several affected generations, everybody who has the mutation also has neuropathy, while everybody who does not have the mutation, does not have neuropathy.

Short of that it is a wait and see situation, i.e. wait until more patients with such mutations are reported.

If Mr. Koster has a large family with other affected members and if many relatives with and without neuropathy undergo genetic testing, then this might lead to a definitive answers.

There are situations in which for one gene a particular mutation causes disease only when both chromosomes are abnormal, while another particular mutation can cause disease when only one chromosome is abnormal.

What is the relationship between Amyloidosis and CMT? Do they normally go hand in hand genetic wise?
Question: What is the relationship between Amyloidosis and CMT? Do they normally go hand in hand genetic wise? 
Dr. Thomas: The term Charcot-Marie-Tooth (CMT) disease is typically used for conditions in which damage to the peripheral nervous system and resulting effects on sensation & muscle strength dominate the clinical picture. Some 100 genes have been found to cause the many subtypes of CMT, of which some are very rare & others quite common. Overall some 125000 people in the USA have CMT.
The term amyloidosis is used for abnormal protein deposits in cells that interfere with normal function. It is not specific for any particular organ involvement. One particular hereditary condition is ATTR or transthyretin familial amyloid polyneuropathy, in which amyloid deposits damage multiple organs including the heart and the nerves. The manifestations can be very serious, leading to poor hear function. This condition is much rarer than CMT.
So CMT & amyloidosis do not go hand in hand, other than neuropathy is part of both.
Are Human Growth Hormone prescribed for CMT patients with progressive muscle loss in legs and arms?
Question: Are Human Growth Hormone prescribed for CMT patients with progressive muscle loss in legs and arms?
Dr. Kafaie: There is no evidence to support the use of human growth hormone in CMT.
Do you know if HNPP can cause low muscle tone in a toddler? In searching for the cause of my son’s low tone, genetic test found he has the pm22 deletion associated with HNPP but he geneticist and neurologist say the two are likely not related.
Question: Do you know if HNPP can cause low muscle tone in a toddler? In searching for the cause of my son’s low tone, genetic test found he has the pm22 deletion associated with HNPP but he geneticist and neurologist say the two are likely not related. 
Dr. Kafaie: It is unusual for HNPP to cause hypotonia in childhood. However, we see genotype/phenotype mismatch as we learn/encounter more hereditary diseases. Some PMP-22 deletions can present as chronic demyelinating neuropathy mimicking CMT1A. A peripheral nerve ultrasound or NCS can be helpful.

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