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Charcot – Marie Tooth Disease
TANYA ISLAND, CRNA, MS
GENETICS PRESENTATION NOVEMBER 21, 2014
Presentation Topics
Overview of the disease Genetic Inheritance Molecular basis Genetic testing & novel therapies
What does CMT look like? Clinical presentation in feet
Overview Symptoms
Slow progressive foot, lower leg, hand & arm degeneration
Weakness, gait changes
Treatment Braces, assistive
devices Surgical correction
Prevalence 1 in 2,500 people No impact on M&M
Diagnosis EMG and nerve
conduction studies Slow NCV is diagnostic
Genetic Inheritance
Autosomal dominant Duplication of PMP22 Other forms of CMT are
autosomal recessive, X-linked inheritance, and spontaneous mutation
Molecular Basis
Chromosome 17 Instructions for
production of peripheral myelin protein 22
Critical component of myelin sheath
Schematic overview of the molecular organization of myelinated axons highlighting the proteins affected in Charcot–Marie–Tooth disease
http://www.nature.com/nrn/journal/v4/n9/fig_tab/nrn1196_F3.html
Genetic Testing & Novel Therapies
PCR Pulsed field gel
electrophoresis
Questions, comments or concerns?
ReferencesNational Human Genome Research Institue. (2014). Learning about Charcot-Marie Tooth Disease. Retrieved from: http://www.genome.gov/11009201
Charcot-Marie Tooth Association. (2014). What is Charcot-Marie Tooth Disease? Retrieved from: http://www.cmtausa.org/index.php?option=com_content&view=article&id=70&Itemid=159
National Institute of Neurological Disorders and Stroke. (2014). Charcot-Marie Tooth Disease Fact Sheet. Retrieved from: http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm
Mayo Clinic. (2014). Charcot-Marie Tooth Disease. Retrieved from:http://www.mayoclinic.org/diseases-conditions/charcot-marie-tooth-disease/basics/definition/con-20029920
OMIM. (2014). Charcot Marie Tooth Disease ICD 118220. Retrieved from:http://www.omim.org/entry/118220