The standard disease of Charcot-Marie-Tooth X indicates neuropathies of the group of the diseases of Charcot-Marie-Tooth whose transmission is related to the X chromosome. Only the Homme S suffer from it and the conducting women do not have traditional symptomatology: muscular weakness of the distal muscles, a loss of the sensitivity, hollow feet.

In addition to traditional symptomatology, one can have a reduction in hearing and some disorders indicating an attack of the central nervous system.

Lastly, 90% of type X are secondary with a change concerning a single gene.

Etiology

Change of the Gene GJB1 located on the Chromosome X coding protein of junction beta-1 protein.

Incidence & prevalence

The Prévalence of hereditary neuropathies is estimated at 30 for 100  000. The Prévalence of the standard disease of Charcot-Marie-Tooth X is of 10 for 100  000.

Description

Diagnosis

Treatment & assumption of responsibility

The genetic Council

Mode of transmission

Recessive related to X chromosome

Sources

• GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005

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