Download - Charcot – Marie Tooth Disease TANYA ISLAND, CRNA, MS GENETICS PRESENTATION NOVEMBER 21, 2014
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Charcot – Marie Tooth Disease
TANYA ISLAND, CRNA, MS
GENETICS PRESENTATION NOVEMBER 21, 2014
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Presentation Topics
Overview of the disease Genetic Inheritance Molecular basis Genetic testing & novel therapies
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What does CMT look like? Clinical presentation in feet
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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
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Genetic Inheritance
Autosomal dominant Duplication of PMP22 Other forms of CMT are
autosomal recessive, X-linked inheritance, and spontaneous mutation
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Molecular Basis
Chromosome 17 Instructions for
production of peripheral myelin protein 22
Critical component of myelin sheath
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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
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Genetic Testing & Novel Therapies
PCR Pulsed field gel
electrophoresis
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Questions, comments or concerns?
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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