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Download Jazmin Youngblood - Charcot Marie Tooth Syndrome
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Transcript
Charcot Marie Tooth Syndrome Discovered in 1886 Several Types of CMT 70-80% CMT patients have Type 1 Does not shorten lifespan Symptoms appear from age 5 to 25 Causes muscle atrophy in hands and feet Diagnosis Progressive peripheral and motor neuropathy Slow nerve conduction Enlarged nerves, especially ulnar nerve Family history Genetics Autosomal dominant Chromosome 17 mutation Genetic testing can identify syndrome Genetic counseling is advised Treatment No cure yet Team of neurologists, orthopedic surgeons, psychical therapists, physiatrists. Special shoes and splints to aid walking Surgery as needed Novel Testing New PCR Testing duplication or deletion of gene Breakpoint of misalignment in myelin Amplifies breakpoint region of duplication or deletion Quicker diagnosis Novel Treatments Experimental Studies Identify more causal genes for syndrome Deliver genes to Schwann Cells Vitamin C http://www.ncbi.nlm.nih.gov/books/NBK1358/ http://omim.org/entry/118220 http://www.ncbi.nlm.nih.gov/books/NBK22241/ http://www.ncbi.nlm.nih.gov/pubmed/1044268
