What are the signs and symptoms of Charcot-Marie-Tooth (CMT) disease?

Updated: Feb 19, 2019
  • Author: Francisco de Assis Aquino Gondim, MD, PhD, MSc, FAAN; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Patients with CMT can present with many symptoms and signs. Disease expression varies between and within kindreds and even among identical twins. CNS features may be part of the disease or indicate an independent coexisting condition; CNS features warrant further investigation in all cases. Nonneurologic manifestations, including endocrine disturbances, have been described. In typical CMT, symptoms are chronic and slowly progressive, but they may be episodic and asymmetric in patients with HNPP and IBPN/HNA.

Most patients with CMT have autosomal dominant forms involving weakness, muscle wasting, and sensory loss predominantly in the distal legs, with onset in the first 2 decades of life. Autosomal recessive inheritance with late onset in earlier generations must be considered when a family history is apparently absent. Importantly, CMT1A has one of the highest de novo mutation rates, similar to neurofibromatosis type 1, as discussed in Pathophysiology. Consequently, cases occur in which a family history is truly absent.

Enlarged and excessively firm nerves are found in more than 25% of patients with CMT1 or DSS and are often visible in the superficial cervical nerves and are palpable in the arms. Gait may be compromised by distal weakness, foot deformities, and poor proprioception. Ankle sprains and fractures are frequent. Reports of cold feet, hair loss, or leg edema are common. Some patients report faster deterioration during pregnancy that is usually, but not always, associated with recovery. As in surgical procedures, prolonged arrangement of the body and limbs in particular positions can result in nerve compression, which could make any underlying neuropathy worse.

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