CHARCOT-MARIE-TOOTH DISEASE

Decreasing motor skills as a young adult may signal the development of a common nerve disease, Charcot-Marie-Tooth disease. Falls may occur, and a lack of stamina. A change in the appearance of the feet, where the arches become higher, produces the diagnosis of a cavus (high arched) foot type.

DiagnosiNG: a nerve conduction study evaluates the nerve’s ability to transmit a signal. Speed of transmission will be delayed. A neurologist may perform genetic testing.

Symptoms: may become more severe with time. Weakness of the foot and lower leg develops, can result in foot drop. Tripping and falls are common. Some patients can end up in a wheelchair. Structural changes occur, with the arch becoming higher. “Stork leg” deformity noted. CMT-type neuropathies are often progressive.

WHAT IS IT: it’s an inherited disorder of the peripheral nervous system, passed on by the mother. Also called Hereditary Motor and Sensory Neuropathy, it interferes with the nerve’s ability to transmit a signal. CMTD affects the nerves controlling voluntary muscles, and also those providing some sensations. The nerve cell sheath allows the speedy transmission of information, but this covering doesn’t function correctly in CMT. Peripheral nerve cells are unable to activate target muscles or relay sensory information from the limbs back to the brain.

Treatment: there isn’t a cure for CMT, but physical therapy (muscle strength training, and a stretching regimen), occupational therapy, braces, as well as other orthopedic devices, and even orthopedic surgery can help. Many new designs for ankle-foot braces (also called an AFO), can make a difference in the ability to walk and stand. Therapy should begin shortly after the diagnosis is made, before nerve degeneration and muscle weakness progress. regularly performed, may delay or reduce muscle atrophy. Stretching reduce the joint deformities. Exercises help increase endurance.  Aerobic activity is good for maintaining cardiovascular fitness. Low-impact or no-impact exercises, such as biking or swimming, are preferable.

The future: a promising area of research involves gene therapy experiments. Another area of research involves the use of nerve growth factors to prevent nerve degeneration.  

A HEALTHY APPROACH: An occupation not physically demanding is best.  Plan carefully activities, conserving energy wherever possible. A specialized foot-ankle brace can make walking easier, and safer. CMTD affects quality of life, but not longevity. Severity varies, but therapy will help. And a good attitude is beneficial.

By Dr. Conway McLean, DABFAS, FAPWHC