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

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 f...

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Bibliographic Details
Published in:Journal of genetic counseling 2013-08, Vol.22 (4), p.422-436
Main Authors: Siskind, Carly E., Panchal, Seema, Smith, Corrine O., Feely, Shawna M. E., Dalton, Joline C., Schindler, Alice B., Krajewski, Karen M.
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Charcot Marie Tooth disease
Charcot-Marie-Tooth Disease - genetics
Charcot-Marie-Tooth Disease - therapy
Clinical Psychology
CMT
Disease
Ethical concerns
Ethics
Genes
Genetic Counseling
Genetic counselling
Genetic subtypes
Gynecology
Hereditary motor and sensory neuropathy
Human Genetics
Humans
Oral hygiene
Peripheral neuropathy
Point Mutation
Psychosocial concerns
Psychosocial factors
Public Health
Review Article
Subtypes
Teeth
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Summary: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.
ISSN:1059-7700
1573-3599
DOI:10.1007/s10897-013-9584-4