Symptoms & Signs
Symptoms usually begin between mid-childhood and early adulthood. They may include:
- Foot deformity (very high arch to feet)
- Foot drop (inability to hold foot horizontal)
- Loss of lower leg muscle, which leads to skinny calves
- Numbness in the foot or leg
- “Slapping” gait (feet hit the floor hard when walking)
- Weakness of the hips, legs, or feet
Later, similar symptoms may appear in the arms and hands, which may include a claw-like hand deformity.
Diagnosis & Tests
A physical exam may show:
- Difficulty lifting up the foot and making toe-out movements
- Lack of stretch reflexes in the legs
- Loss of muscle control and atrophy (shrinking of the muscles) in the foot or leg
- Thickened nerve bundles under the skin of the legs
A muscle biopsy or nerve biopsy may confirm the diagnosis. Nerve conduction tests are often done to tell the difference between different forms of the disorder.
Genetic testing is available for most forms of the disease.
-
Charcot-Marie-Tooth disease : Overview, Causes, & Risk Factors
-
Charcot-Marie-Tooth disease : Symptoms & Signs, Diagnosis & Tests
-
Charcot-Marie-Tooth disease : Treatment
Review Date : 8/26/2009
Reviewed By : Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only — they do not constitute endorsements of those other sites. © 1997- 2010 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
