Answers to questions families often have about caring for their child with Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease, also called hereditary motor sensory neuropathy, is a group of disorders where the nerves from the spinal cord to the feet and hands do not work normally. Feet are usually more affected than hands because this condition affects the longer nerves to the feet before the shorter nerves to the hands. Symptoms appear in the lower extremities (below the hips to the toes) with foot shape abnormalities and possibly difficulty walking.

Both of these terms, hereditary motor sensory neuropathy and CMT, refer to the same condtion.

CMT is a genetic disorder (either passed on from the parents or by a gene change that occurred spontaneously in the child during development). There are many types of CMT depending on which gene change is responsible.

Most children with CMT don’t get symptoms until adolescence, although symptoms for some of the types can appear sooner. Symptoms include abnormally shaped feet with high arches and sometimes deformed toes and weakness in the ankle muscles. Later on, hand weakness may develop. Some people with CMT may have scoliosis, back curvature, or problems with their hips. It does not affect the heart, lungs, or brain.

Usually, the changes like increased difficulty walking happen quite slowly. Children/adolescents with CMT may have difficulty with sports, handwriting for long periods, and may need 504 accommodations (see 504 Plan) at school to help them function at their best.

When assessing a child for possible CMT, the provider will ask about a family history of problems with walking, foot shape, etc.

CMT is diagnosed by a combination of EMG (electromyography)/NCV (nerve conduction velocities) and genetic testing for the specific type of CMT. EMG/NCV looks at the velocity of the nerve response along a nerve, which can be altered in some types of CMT and the amplitude or strength of the nerve response which is altered in other types of CMT. Genetic testing checks the child's DNA for gene changes that cause CMT. This helps doctors tell the patient and family what to expect.

CMT is not related to MS, which affects the central nervous system. CMT affects the peripheral nerves (nerves outside the brain and spinal cord), which run from the spinal cord out to the hands and feet.

There are many types of CMT, and it is a little hard to predict outcome without knowing the type. Problems, once diagnosed, are lifelong and sometimes progressive. Weakness and sensory problems in feet and hands can get worse over time. Children with CMT may have hip problems and scoliosis (curvature of the back); however, the heart, lung, and brain are not affected in this condition. Life expectancy is not affected.

Other family members may have CMT. When the first child gets diagnosed, other family members may be tested depending on symptoms.

There is no cure for CMT to make it go away, but there are treatments that ease the symptoms.

CMT can cause pain, especially in the feet, which is usually managed by physical therapy, orthotics, massage, heat, and similar measures. Occasionally, some inividuals with CMT may benefit from a medication that alters pain signaling in the brain such as gabapentin.

Treatment for CMT is symptomatic. Doctors will work to help with symptoms, such as difficulty with walking, with physical therapy, orthotics, and other interventions.

CMT is a chronic condition and the child may have ongoing challenges with walking and sometimes fine motor abilities such as handwriting.

Information and support from other families with children with CMT may be very helpful – see the links below.