Charcot-Marie-Tooth disease (CMT) is an inherited nerve disorder that primarily causes progressive muscle weakness and wasting in the feet, legs, and eventually the hands. It affects roughly 1 in 2,500 people, making it the most common inherited neuromuscular condition. Symptoms typically begin in childhood or adolescence, though some people don’t notice problems until early adulthood.
Leg and Foot Changes Come First
CMT targets the longest nerves in the body first, so the feet and lower legs are almost always where symptoms begin. The muscles in the lower legs gradually shrink, sometimes creating a distinctive shape where the calves look like an upside-down champagne bottle. This is sometimes called “stork leg” appearance, and it results from the contrast between relatively normal thigh muscles and visibly wasted calves.
As those muscles weaken, the structure of the foot itself changes. High arches (pes cavus) are one of the hallmark signs, along with hammertoes, where the toes curl downward at the middle joint. These foot deformities aren’t just cosmetic. They shift your weight distribution, make it harder to find shoes that fit, and contribute to ankle instability and frequent sprains.
Walking and Balance Problems
One of the most functionally disruptive symptoms is foot drop, the inability to lift the front of the foot while walking. It develops because the muscles that pull the foot upward weaken early in the disease course. To compensate, people with CMT lift their knees higher than normal with each step, producing what clinicians call a steppage gait. This high-stepping pattern is tiring and makes walking on uneven surfaces risky.
Foot drop also causes frequent tripping, particularly on stairs, curbs, or carpet edges. Combined with the loss of proprioception (your body’s sense of where your limbs are in space), balance becomes increasingly unreliable. Ankle-foot orthoses, which are lightweight braces worn inside shoes, are commonly prescribed to support the ankle and reduce foot drop. Functional electrical stimulation, which uses small electrical pulses to activate weakened muscles during walking, is another option that some people find helpful.
Sensory Symptoms
CMT doesn’t only affect the motor nerves that control movement. Sensory nerves are involved too, producing a pattern of numbness, tingling, or pain that typically starts in the feet and gradually extends upward toward the knees, then later appears in the fingertips and hands. This “stocking-glove” pattern mirrors the length-dependent nature of the disease: longer nerves deteriorate first.
Specific sensory losses include difficulty feeling heat, cold, and light touch, along with a reduced ability to sense vibrations. The loss of proprioception is particularly troublesome because it undermines balance even when muscle strength is still reasonable. You may find yourself stumbling in the dark or on uneven ground because your feet can’t reliably tell your brain where they are.
Hand Weakness and Fine Motor Difficulty
Although CMT is often described as affecting the hands “later,” research on children with CMT type 1A has shown that hand weakness and dysfunction can be present from the earliest stages. Over time, the small muscles in the hands waste, particularly the muscles at the base of the thumb and pinky finger. This leads to trouble with tasks that require finger dexterity: handwriting, buttoning clothing, opening jars, using zippers, and handling small objects.
Hand grip strength and fingertip pinch strength both decline with age. For many people, these hand problems are among the most frustrating aspects of the disease because they affect independence in everyday tasks that others take for granted.
Pain and Fatigue
CMT was once considered a painless condition, but that understanding has changed. Pain in CMT comes from multiple sources. Nerve damage itself can produce neuropathic pain: burning, tingling, or shooting sensations, particularly in the feet and hands. Then there’s musculoskeletal pain from the strain of walking with altered mechanics, stiff joints from foot deformities, and muscle cramps from overworked compensating muscles.
Fatigue is another common but underappreciated symptom. The steppage gait pattern is far less energy-efficient than normal walking, so everyday activities require significantly more effort. Many people with CMT describe hitting a wall of exhaustion by the end of the day, even if they haven’t done anything that would tire someone without the condition.
Skeletal Complications
Beyond the feet, CMT can cause broader skeletal changes. Scoliosis, an abnormal curvature of the spine, develops in a portion of people with the disease. Hip dysplasia is another concern, particularly in children. A large single-center study of 178 children with CMT found that between 9.6% and 22.9% had confirmed hip dysplasia, and about 1 in 10 required surgery. Because hip dysplasia can develop over time even when early imaging looks normal, children with CMT are often monitored with periodic pelvic imaging.
Early Signs in Children
In children, CMT often shows up as clumsiness before anyone suspects a nerve disorder. A child may be noticeably slower than peers when running, trip frequently, or have difficulty keeping up in physical education classes. Frequent ankle sprains that seem out of proportion to activity level are a common early clue. Parents sometimes notice that their child walks on the outsides of their feet or has unusually high arches.
Handwriting difficulties, complaints of tired legs, and reluctance to participate in physical activities can all be early indicators. Because these signs overlap with many other childhood concerns, CMT is often not diagnosed until foot deformities become more obvious or a family history prompts genetic testing.
How Symptoms Progress Over Time
CMT is a slowly progressive condition. Most people experience a gradual worsening over years to decades rather than sudden deterioration. The general pattern moves from the feet and lower legs upward to the hands and forearms, though the rate varies widely even among family members who share the same genetic mutation. Some people have mild symptoms their entire lives, while others eventually need mobility aids like ankle braces, canes, or, less commonly, wheelchairs.
Importantly, CMT does not typically affect life expectancy. It does not involve the heart, lungs, or brain in most subtypes. The central challenge is maintaining mobility, hand function, and comfort as the peripheral nerves slowly lose their ability to transmit signals to the muscles and sensory receptors in the extremities.
Reduced or absent tendon reflexes, particularly at the ankle, are a consistent physical finding across all CMT types and often one of the earliest detectable signs on a neurological exam, sometimes present before a person notices any symptoms at all.