The signs and symptoms of CMT are typically described as high arches, numbness and/or tingling in the feet and hands, frequent trips, frequent ankle sprains, walking/standing on the sides of the feet, a slow response to temperature (hot and cold water), poor balance, muscle cramps in the lower legs/feet, muscle cramps in the hands, and fine motor skill issues. These are just a small example of some of the things CMT can cause. It would take volumes to cover all the symptoms of CMT, but we’ll go over some basics here.
Some early signs and symptoms of CMT might include but are not limited to toe-walking (especially in children), frequent tripping caused by catching the toes due to a weakening of the muscles that pick up the front of the foot, frequent ankle rolls/sprains caused by ankle instability due to a weakening of the muscles used for controlling the ankle, frequent muscle cramps in the hands and problems with using pens/pencils/crayons and eating utensils, and issues with other tasks involving fine motor skills—zippers, buttons, keys, etc.
CMT often causes numbness, especially in the points farthest away from the spinal cord, such as the hands and feet. Hand numbness can be random and episodic. It’s not uncommon for somebody who has CMT to wake up in the morning with painfully numb hands. Sometimes, this numbness clears up within a couple of hours. Other times, it can last for weeks.
CMT often causes severe chronic pain. The pain can be debilitating. Sometimes, the pain is neuropathic pain. Other times, it’s muscle and joint pain. For many who have CMT, it can be both. CMT often causes a great deal of fatigue. It’s well known that somebody who has CMT typically expels three times more energy performing even the most remedial of tasks than somebody who does not have CMT. Chronic pain only adds to the fatigue.
CMT often causes high arches as part of what’s called cavovarus foot deformity. A cavovarus foot has a high arch and is twisted downward towards the front and outward onto the lateral (outside) edge of the foot. This deformity is caused by an unbalanced weakening of the muscles that control the foot.
For reasons unknown, some of the muscles that control the foot remain relatively strong in CMT while their opposing muscles become relatively weak. The unbalanced muscle forces exerted on the foot are strong enough to cause bones in the foot to change shape. The result is a painful, twisted, and crooked foot that poorly distributes weight, makes mobility difficult; and over time, can lead to premature ankle, knee, hip, and lower back wear/degenerative changes.
As common as cavovarus foot deformity is in CMT, the opposite deformity can also occur: pes planus, or what is a flat foot. A pes planus deformity in CMT is also caused by an unbalanced weakening of the muscles that control the foot. The unbalanced weakening occurs in muscles opposite to those that cause cavovarus deformity. A pes planus deformity causes the foot to turn inward rather than outward, again, because opposite to cavovarus. Pes planus deformity is as painful and problematic as cavovarus foot deformity.
Kneecap dislocations can commonly occur in CMT, especially in children. A condition called patella alta, or what is a kneecap (patella) that is located higher up the leg than it should be, can be seen in many who have CMT. This is likely caused by a weakening of the leg muscles and likely contributes to the dislocations.
CMT often causes finger contractures (clawed hands), toe contractures, tremor, absent or reduced reflexes, poor circulation (neuromuscular-induced venous insufficiency), scoliosis, kyphosis (kyphoscoliosis when scoliosis and kyphosis occur together), and the list goes on. Less common, but still quite troublesome, CMT can cause neurogenic bladder issues, neurogenic bowel issues, vision problems (due to optic atrophy and/or slowly reactive pupils), vestibular issues, speech/vocal issues, and swallowing/choking issues, just to name a few more.
The above represents just a small snapshot of the signs and symptoms of CMT/what CMT can cause. Additional selected symptoms are briefly discussed below. This page is not intended to be an all-inclusive CMT symptom list. Rather, the purpose here is to provide only a brief overview of what CMT can look like for many. Not every person who has CMT will experience every symptom CMT has to offer, and each person will experience their own symptom mix, individual symptom severity, and overall disease severity. The reasons for this variability are poorly understood.
