Standard disease of Charcot-Marie-Tooth 2

The standard disease of Charcot-Marie-Tooth 2 accounts for approximately 30% of the cases of diseases of Charcot-Marie-Tooth. She resembles clinically the standard Maladie of Charcot-Marie-Tooth 1 but in a less severe way.

With the difference of type 1, it standard 2 is not accompanied by a reduction the speed of nervous conduction because in this group of the diseases of Charcot-Marie-Tooth the demyelinisation of the nerve is absent: it is the Axone which is reached.

There exist 15 sub-types whose distinction can be done only on genetic criteria.

Other names

Standard disease of Charcot-Marie-Tooth axonale

Etiology

The table below summarizes the different ones under types, the frequency, the genes, the chromosomes and the proteins implied in the standard disease of Charcot-Marie-Tooth 2.

Incidence & prevalence

The Prévalence of hereditary neuropathies is estimated at 30 for 100 000. The Prévalence of the standard disease of Charcot-Marie-Tooth 2 is of 10 for 100 000. The prevalence of the sub-types is unknown.

Description

Diagnosis

Treatment & assumption of responsibility

The genetic Council

Mode of transmission

The majority of under types are of dominant autosomic Transmission except under 2B1 types, 2B2, 2:00, and 2K which is of recessive autosomic Transmission

Sources

Inserm U491 : The CMT axonale of the 2B1 type * GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005

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