Diagnosis of charcot-marie-tooth disease

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J Biomed Biotechnol. 2009;2009:985415.

Diagnosis of charcot-marie-tooth disease.

Banchs I, Casasnovas C, Albertí A, De L, Povedano M, Montero J,

Martínez-Matos JA, Volpini V.

Molecular Diagnosis Center of Inherited Diseases, Institut de Investigació

Biomèdica de Bellvitge (IDIBELL), Gran Via 199, 08907 L'Hospitalet de Llobregat,

Barcelona, Spain.

Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy

(HMSN) is a genetically heterogeneous group of conditions that affect the

peripheral nervous system. The disease is characterized by degeneration or

abnormal development of peripheral nerves and exhibits a range of patterns of

genetic transmission.

In the majority of cases, CMT first appears in infancy, and its manifestations

include clumsiness of gait, predominantly distal muscular atrophy of the limbs,

and deformity of the feet in the form of foot drop. It can be classified

according to the pattern of transmission (autosomal dominant, autosomal

recessive, or X linked), according to electrophysiological findings

(demyelinating or axonal), or according to the causative mutant gene.

The classification of CMT is complex and undergoes constant revision as new

genes and mutations are discovered. In this paper, we review the most efficient

diagnostic algorithms for the molecular diagnosis of CMT, which are based on

clinical and electrophysiological data.