Signs of CMT
Outward signs are what doctors look for to begin a diagnosis of CMT. The primary signs for CMT are: loss of muscle in the calf area giving the leg a very thin look from the knee down, a drop foot walk, high arches or very flat feet and other foot bone deformities, cocked or hammertoes, ankle weakness and loss of feeling and/or movement in the foot and ankle. Often, people will think they are klutzes or have always tripped over anything when in fact they've just always been experiencing CMT. CMT feet can also look very normal.
Primary signs in the upper extremities are finger, hand and grip as well as wrist weakness, the loss of the muscle that lets the thumb move and a loss of feeling and/or movement in the hand and wrist. People will sometimes think they are just getting sloppy because they drop things or cannot do up buttons or pick up pins or coins. CMT affected hands can also look very normal and yet be weak.
Balance is usually affected because the muscles of the feet are weak and cannot compensate for a sudden stop or a change in the terrain. Even standing still can be very difficult and someone with CMT will often have to reach out and just touch something to be able to stand still.
Weak or absent reflexes can help a doctor diagnose CMT and of course knowing your family history helps a great deal.
Fatigue is one of the prime symptoms that everyone who has CMT seems to experience. Pacing and moderation is what we advocate. Easier said than done, we know, but it works.
Scoliosis and other spinal deformities are often diagnosed in people who show CMT at an early age and some people experience hip and knee dislocations while some are born with deformed hip sockets.
Diagnosis can also be made by doing an electromyogram (EMG) that measures the irritability and function of muscles and motor nerve-conduction velocity (MNCV) tests that establish the ability of nerves to send and receive impulses.