Diagnosis, natural history, and management of Charcot-Marie-Tooth disease

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Lancet Neurol. 2009 Jul;8(7):654-67.

Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.

Pareyson D, Marchesi C.

Unit of Neurology VIII-Clinics of Central and Peripheral Degenerative

Neuropathies, Department of Clinical Neurosciences, IRCCS Foundation, C Besta

Neurological Institute, Milan, Italy.

Charcot-Marie-Tooth disease is the most common inherited neuromuscular disorder.

There have been substantial advances in elucidating the molecular bases of this

genetically heterogeneous neuropathy and, in most cases, molecular diagnosis is

now possible.

The diagnostic approach requires careful assessment of clinical presentation and

mode of inheritance, nerve-conduction studies, and DNA testing, and current

research is focused on assessing natural history and finding effective

treatments.

Disease course is variable because of genotypic and phenotypic heterogeneity. At

present, there is no drug therapy for Charcot-Marie-Tooth disease, and

rehabilitation therapy and surgical procedures for skeletal deformities are the

only available treatments, although best practice has not been defined. Animal

models are proving useful for the identification of therapeutic targets and

approaches.

Progesterone antagonists, neurotrophic factors, ascorbic acid, and curcumin have

shown promising results in experimental models, and ascorbic acid is being

studied in large randomised controlled trials.