First, I have to say that the signs and symptoms talked out in this section are ones I have learned about and seen over the last 18 years. Some may be pooh-poohed by doctors but then a lot of research hasn't been done on some of the things that bother us when we have CMT.

Also, some of the things that we complain of are things that many people complain of, CMT or not. I've tried to talk about the things that are specific to CMT here.

One thing you must know and please read this over four or five times: some of you may have some of these signs and symptoms, none of you will have all of them and most of you will only have or ever have a few of them.

This item goes under the Wellness category because we are well most of the time. CMT does not mean that we are sick. Sure, we get colds and flu and they make us sick. We sometimes get diabetes, heart disease and cancer and so do many people but WE are born with CMT; it is part of us. Research has shown that we have a triple helping of DNA, the very staff of life.

However, we can keep as well as possible and that's what this is about.

I'll begin with the signs of CMT. The signs of CMT are what the doctor's look for when you go for aa diagnosis. If they do an electromyogram (EMG) where they put little needle-like electrodes into your muscles, those reading can help them know that something is wrong but these reading can also be normal and you can have CMT. An EMG is not always a reliable way to tell if a person has CMT. A blood test will tell you if you have one of the type of CMT that a test is available for. There are many that there is no test for but the most common ones can be tested for through a blood test (click on Athena lab logo on our default page).

A complete family history should be taken by your doctor as well and it makes sense for you to do some sleuthing into your family's past before you see a doctor for a diagnosis.

Signs of CMT
Loss of muscle in the face

Ongoing problems with eyesight and/or hearing that no physician can explain

Ongoing problems with breathing that is diagnosed as asthma but not helped by asthma medication and really bad headaches when before or upon waking.

Scoliosis or kyphosis of the spine

From the elbows down: loss of muscle, hand, wrist and arm strength wrist
loss of finger strength especially the thumb
inability to cup the hand to hold things
inability to oppose the thumb to pinch and pick up things
loss of feeling and/or movement

Hip irregularities

Weak or absent reflexes in knees, elbows and ankles

From the knees down: loss of muscle in the knees and calf area
or mega-calves, big calves that look healthy
Loss of ankle and foot strength including toes
Very high arches or a very flat foot
Cocked or hammer toes
Loss of feeling and or movement
Foot drop - the inability to lift your foot up when you want to take a step.

Remember, you will not likely have all of these signs but you could have some of them. Doctors trying to diagnose you will usually look at your hands, spine and feet first and then ask you to walk away from them and towards them. They will likely test for reflexes and muscle loss and even for feeling. If a doctor is about to stick you with a pin and you have acute feeling in your extremities, tell him.

Also, please know that an electromyogram can be quite painful for those of us who have extreme muscle loss. If one is suggested and during it, you find yourself in a great deal of pain, simply tell the doctor to stop. No one should be brutalized to diagnose a condition and it can happen when doctors don't realize how profound the pain can be when you have CMT and acute muscle loss and electrical impulses are sent through the little you have remaining of those muscles. Thankfully, the blood tests have dome away with most EMGs.

Also, there is a nerve conduction velocity test (NCV) that measures the velocity of the impulses through the nerve that takes no imbedded electrodes. Ask fr that if the thought of an EMG or another one to simply know how your CMT has progressed, upsets you. An EMG is not a treatment, it is purely a diagnostic tool and if you really have pain from it, refuse it.

Symptoms of CMT
The symptoms of CMT differ from the signs as the signs are the outward things that your doctor looks for to begin to diagnose your CMT. The symptoms are what you feel, what you complain of, what hurts, the things that bother you. CMT is rightly called a syndrome because it has so many varying symptoms.

I've run across many symptoms in the many years I've worked with people who have CMT and I'll list them here but again, remember, you may have some and will not have all of them or you may only have one or two and wonder how others can be so badly affected and you so lightly. Each of us is a unique individual. There is no set pattern of development except that most of us develop our signs symmetrically. We don't have foot drop in one foot only or only one weak hand.

We'll start at the top

Severe headaches - sleep disorders
Eyesight - acute sensitivity to light, nerve degeneration
Hearing - acute or deafness
Facial muscle weakness - this can show when the person begins to look gaunt and has huge hollows below their cheekbones, inability to whistle, trouble forming words using tongue and lips, difficulty chewing, biting tongue, lips, mouth while eating.

Weak neck muscles - problems holding up head for any length of time

Throat - Swallowing problems - choke often when eating, aspirate liquids when drinking

Loss of voice - partial or full paralysis of vocal cords (talk to Linda about this)

Shoulder, back and chest wall muscle weakness resulting in easily fatigued muscles when trying to play piano or sit at a computer for any great length of time. Stabbing pain between ribs or in chest wall. The muscles of the back can be chronically strained or your hip muscles are weak and you use your back muscles to hold your body upright all of the time.

Scoliosis or kyphosis of the spine that makes breathing etc. difficult. This can be corrected.

Loss of upper arm strength which can make bathing and grooming difficult.

Breathing problems - phrenic nerve involvement especially laying down so you don't breathe as well in bed and wake up with Co2 retention headaches. Your breathing should be tested both sitting and laying down as you would in bed. Breathing problems in CMT can be helped. There are many ways that breathing and sleep problems can be helped.

Digestive problems could be exacerbated in folks who have CMT by loss of nerve enervation to the digestive tract. This can affect swallowing, digestion and elimination. Diarrhea and constipation associated with CMT can usually be treated. Reflux can also be treated. Swallowing problems are trickier but thickening liquids can help and eating slowly, chewing the food well and saying a silent, Ah, after each bite to get the esophagus ready for the next bite can help.

Very cold or very hot hands as well as loss of feeling and/or movement. Surgery can sometimes help with loss of grip if enough muscle is left in the forearm.

Weak wrists, clawed fingers, inability to make a cupped hand, inability to pinch or pick up small items, or do up buttons, etc.

Hip dysplasia - the hips don't fit well into the pelvis bone and this can throw your spine, walking and sitting off. This can be corrected surgically.

Sexual problems - impotence, loss of feeling, muscle cramping, inability to reach orgasm or to ejaculate. Some of these are rare but people don't talk openly about these symptoms, even to their doctors, so many problems in this area go unseen and unmentioned. See our section on Sex and CMT.

Elimination problems - diarrhea and/or constipation - they can alternate or you can exerpeince one or the other. Stress plays a big part here.

Thigh area - many have reported pain in the thigh areas perhaps because we sit so much and some of us have little feeling and/or movement from the knees down. Muscle loss, intense cramping, shooting and/or burning pain, wringing pain plus other symptoms can all be part of problems in the thigh area. See Pain and CMT section.

Knees - Because our knees take the brunt of our many falls and our foot and walking problems they can become weak, the knee caps can dislocate and we can lose the ability to lift our leg from the knee. It just swings and we can't pull it up because the hamstring and other thigh muscles have atrophied. If knees get too weak the person no longer can stand reliably and falls become so severe that a cane, canes, a walker or an electric wheelchair or scooter is used for safety and mobility. A person can get to the point where they'd rather use a mobility aid than risk more pain and damage from falling. It is then that mobility aids are accepted and used willingly.

Calf area - most people with CMT have atrophied calf muscles giving them very thin looking legs from the knees down. This thin calf then makes the knees look huge. There are some who have what is called mega-calves. These are healthy looking, even fat, calves but they are part of the person's CMT. Many complain of massive cramps in their calves especially at night and walking the floor trying to relieve these cramps. The best results have been with quinine. Talk to your doctor about this. It is also in tonic water. Muscle relaxants can be counter productive with us as we can lose our ability to stand using different muscles than able-bodied people.

Foot and ankle areas can be painful because the muscles have atrophied and the ankle and foot are trying to carry your body weight and also function as a normal foot would. Sprains, breaks and foot pain walking and/or standing is not uncommon. Very high arches can mean that a person never finds a comfortable or well-fitting shoe. High arches can be easily fixed surgically. An extremely low arch can mean that the person is walking on their ankle bones or experiencing constant sprains. This can also be stabilized through surgery. Foot drop can make a person lift their foot from the thigh thus giving them a high slapping gait. This can be helped through the use of a light-weight ankle foot orthosis (AFO) that holds your foot in a walking position so it will not drop. AFOs help tripping and falling, save energy and allow a person with CMT to walk more normally without so much wear on the knees, hips and spine. See our Surgery and Bracing and Pain sections.

Toes - can curl, the knuckles can rub on your shoes or you can walk on your curled toes actually walking on the toenails. Toes can cross. In any and all of these cases walking can be extremely painful. Toes can be easily fixed surgically and a simple toe operation can lead to immense relief when walking.

Balance is one of the things a person with CMT usually finds is affected. Many of us simply have to just reach out and touch something to enable us to stand still. Some of us have even worse balance problems and must use a cane or staff to feel safe. Our CMT can affect our balance because the muscles in our feet and legs are not normal. But read below.

Proprioception is our ability to tell where our body is in space. When our proprioception is off we can fall for seemingly no reason or we may think we have pulled our foot into the car and it is still outside and can be crushed by the door. If a car pulls away from us we may feel as if we are falling or are very dizzy. Our body isn't able to tell us that the car is moving and we are not. We may be lying on a bed and not sure where our legs or our arms are. This is a problem with proprioception. It can interfere with our balance, our walking, our ability to judge where we put our body and we should be aware that it exists so we don't think were going a little bit nuts.

Fatigue can be overwhelming with CMT. You are using trying to make atrophied muscles do the same work that a person who has normal muscles would do. Please see our section on Fatigue.

Overall the person with CMT may complain of pain, sensitivity to drugs, stimulants, hot and cold, loud sound, bright light and extremes including any prolonged stressor.

Knowledge is power. Ask questions, find yourself a doctor who knows CMT and if he doesn't and is willing to learn, find him everything you can on your symptoms.

Common sense and learning to pacing yourself is the best way to live well with CMT.