Charcot-Maire-Tooth Disease Symptoms & Diagnosis

Symptoms

Symptom onset and type vary depending on the type of CMT. Usually, symptoms first appear in children and young adults. The first sign of CMT is often a high arched foot or difficulty walking. Other symptoms may include:

Hammer toes
High arched heels
Decreased sensation in the feet and legs
Muscle cramping in legs and forearms
Flexed toes
Difficulty holding the foot up in a horizontal position
Frequent sprained ankles and ankle fractures
Problems with balance
Muscle weakness and atrophy in the lower extremities—can spread to the upper extremities later in life
Foot drop
Diminished ability to detect hot and cold, vibration, and position
Difficulty writing, fastening buttons and zippers, and manipulating small objects
Scoliosis
Delay in learning how to walk (Type III)
Congenital glaucoma (Type IV only)

Diagnosis

The doctor will ask about your symptoms and medical history, and perform a physical exam. Tests may include:

Nerve conduction study —a test that measures the speed and amplitude of nerve impulses in the extremities
Electromyogram (EMG) —a test that records the electrical activity of muscle cells
DNA blood test—to confirm certain types of CMT, even if there are no symptoms