A Review of Genetic Counseling for Charcot Marie Tooth Disease (CMT)

Overview

Journal J Genet Couns

Publisher Wiley

Specialty Genetics

Date 2013 Apr 23

PMID 23604902

Citations 9

Authors

Carly E Siskind

Seema Panchal

Corrine O Smith

Shawna M E Feely

Joline C Dalton

Alice B Schindler

Karen M Krajewski

Affiliations

Soon will be listed here.

Abstract

Charcot Marie Tooth disease (CMT) encompasses the inherited peripheral neuropathies. While four genes have been found to cause over 90 % of genetically identifiable causes of CMT (PMP22, GJB1, MPZ, MFN2), at least 51 genes and loci have been found to cause CMT when mutated, creating difficulties for clinicians to find a genetic subtype for families. Here, the classic features of CMT as well as characteristic features of the most common subtypes of CMT are described, as well as methods for narrowing down the possible subtypes. Psychosocial concerns particular to the CMT population are identified. This is the most inclusive publication for CMT-specific genetic counseling.

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