Charcot-Marie-Tooth disease: an overview of genotypes, phenotypes, and clinical management strategies

PM R. 2014 Apr;6(4):342-55. doi: 10.1016/j.pmrj.2013.08.611. Epub 2014 Jan 13.


Charcot-Marie-Tooth (CMT) disease, which encompasses several hereditary motor and sensory neuropathies, is one of the most common neuromuscular disorders. Our understanding of the molecular genotypes of CMT and the resultant clinical and electrophysiological phenotypes has increased greatly in the past decade. Characterized by electrodiagnostic studies into demyelinating (type 1) and axonal (type 2) forms, subsequent genetic testing often provides an exact diagnosis of a specific subtype of CMT. These advancements have made diagnostic paradigms fairly straightforward. Still, the nature and extent of neuromuscular disability is often complex in persons with CMT, and no curative treatments are yet available. Genotypically homologous animal models of CMT have improved exploration of disease-modifying treatments, of which molecular genetic manipulation and stem cell therapies appear to be the most promising. Research is also needed to develop better rehabilitative strategies that may limit disease burden and improve physical performance and psychosocial integration. Clinical management should be multidisciplinary, including neurologists, physiatrists, neurogeneticists, neuromuscular nurse practitioners, and orthopedists, along with physical and occupational therapists, speech-language pathologists, orthotists, vocational counselors, social workers, and other rehabilitation clinicians. Goals should include maximizing functional independence and quality of life while minimizing disability and secondary morbidity.

Publication types

  • Review

MeSH terms

  • Charcot-Marie-Tooth Disease* / diagnosis
  • Charcot-Marie-Tooth Disease* / genetics
  • Charcot-Marie-Tooth Disease* / physiopathology
  • Charcot-Marie-Tooth Disease* / therapy
  • Genotype
  • Humans
  • Phenotype
  • Quality of Life