charcot – marie tooth disease tanya island, crna, ms genetics presentation november 21, 2014

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